Niemann-Pick disease type C symptomatology: an expert-based clinical description

Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Mengel, Eugen [verfasserIn] Klünemann, Hans-Hermann Lourenço, Charles M Hendriksz, Christian J Sedel, Frédéric Walterfang, Mark Kolb, Stefan A

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2013

Schlagwörter:	Niemann-Pick disease type C Lysosomal lipid storage disease Splenomegaly Ataxia Dystonia Vertical supranuclear gaze palsy Gelastic cataplexy Cognitive impairment Diagnosis

Anmerkung:	© Mengel et al.; licensee BioMed Central Ltd. 2013

Übergeordnetes Werk:	Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 8(2013), 1 vom: 17. Okt.
Übergeordnetes Werk:	volume:8 ; year:2013 ; number:1 ; day:17 ; month:10

Links:	Volltext

DOI / URN:	10.1186/1750-1172-8-166

Katalog-ID:	SPR029488192

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allfields	10.1186/1750-1172-8-166 doi (DE-627)SPR029488192 (SPR)1750-1172-8-166-e DE-627 ger DE-627 rakwb eng Mengel, Eugen verfasserin aut Niemann-Pick disease type C symptomatology: an expert-based clinical description 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mengel et al.; licensee BioMed Central Ltd. 2013 Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. Niemann-Pick disease type C (dpeaa)DE-He213 Lysosomal lipid storage disease (dpeaa)DE-He213 Splenomegaly (dpeaa)DE-He213 Ataxia (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Vertical supranuclear gaze palsy (dpeaa)DE-He213 Gelastic cataplexy (dpeaa)DE-He213 Cognitive impairment (dpeaa)DE-He213 Diagnosis (dpeaa)DE-He213 Klünemann, Hans-Hermann aut Lourenço, Charles M aut Hendriksz, Christian J aut Sedel, Frédéric aut Walterfang, Mark aut Kolb, Stefan A aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 8(2013), 1 vom: 17. Okt. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:8 year:2013 number:1 day:17 month:10 https://dx.doi.org/10.1186/1750-1172-8-166 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2013 1 17 10
spelling	10.1186/1750-1172-8-166 doi (DE-627)SPR029488192 (SPR)1750-1172-8-166-e DE-627 ger DE-627 rakwb eng Mengel, Eugen verfasserin aut Niemann-Pick disease type C symptomatology: an expert-based clinical description 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mengel et al.; licensee BioMed Central Ltd. 2013 Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. Niemann-Pick disease type C (dpeaa)DE-He213 Lysosomal lipid storage disease (dpeaa)DE-He213 Splenomegaly (dpeaa)DE-He213 Ataxia (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Vertical supranuclear gaze palsy (dpeaa)DE-He213 Gelastic cataplexy (dpeaa)DE-He213 Cognitive impairment (dpeaa)DE-He213 Diagnosis (dpeaa)DE-He213 Klünemann, Hans-Hermann aut Lourenço, Charles M aut Hendriksz, Christian J aut Sedel, Frédéric aut Walterfang, Mark aut Kolb, Stefan A aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 8(2013), 1 vom: 17. Okt. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:8 year:2013 number:1 day:17 month:10 https://dx.doi.org/10.1186/1750-1172-8-166 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2013 1 17 10
allfields_unstemmed	10.1186/1750-1172-8-166 doi (DE-627)SPR029488192 (SPR)1750-1172-8-166-e DE-627 ger DE-627 rakwb eng Mengel, Eugen verfasserin aut Niemann-Pick disease type C symptomatology: an expert-based clinical description 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mengel et al.; licensee BioMed Central Ltd. 2013 Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. Niemann-Pick disease type C (dpeaa)DE-He213 Lysosomal lipid storage disease (dpeaa)DE-He213 Splenomegaly (dpeaa)DE-He213 Ataxia (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Vertical supranuclear gaze palsy (dpeaa)DE-He213 Gelastic cataplexy (dpeaa)DE-He213 Cognitive impairment (dpeaa)DE-He213 Diagnosis (dpeaa)DE-He213 Klünemann, Hans-Hermann aut Lourenço, Charles M aut Hendriksz, Christian J aut Sedel, Frédéric aut Walterfang, Mark aut Kolb, Stefan A aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 8(2013), 1 vom: 17. Okt. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:8 year:2013 number:1 day:17 month:10 https://dx.doi.org/10.1186/1750-1172-8-166 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2013 1 17 10
allfieldsGer	10.1186/1750-1172-8-166 doi (DE-627)SPR029488192 (SPR)1750-1172-8-166-e DE-627 ger DE-627 rakwb eng Mengel, Eugen verfasserin aut Niemann-Pick disease type C symptomatology: an expert-based clinical description 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mengel et al.; licensee BioMed Central Ltd. 2013 Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. Niemann-Pick disease type C (dpeaa)DE-He213 Lysosomal lipid storage disease (dpeaa)DE-He213 Splenomegaly (dpeaa)DE-He213 Ataxia (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Vertical supranuclear gaze palsy (dpeaa)DE-He213 Gelastic cataplexy (dpeaa)DE-He213 Cognitive impairment (dpeaa)DE-He213 Diagnosis (dpeaa)DE-He213 Klünemann, Hans-Hermann aut Lourenço, Charles M aut Hendriksz, Christian J aut Sedel, Frédéric aut Walterfang, Mark aut Kolb, Stefan A aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 8(2013), 1 vom: 17. Okt. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:8 year:2013 number:1 day:17 month:10 https://dx.doi.org/10.1186/1750-1172-8-166 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2013 1 17 10
allfieldsSound	10.1186/1750-1172-8-166 doi (DE-627)SPR029488192 (SPR)1750-1172-8-166-e DE-627 ger DE-627 rakwb eng Mengel, Eugen verfasserin aut Niemann-Pick disease type C symptomatology: an expert-based clinical description 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mengel et al.; licensee BioMed Central Ltd. 2013 Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. Niemann-Pick disease type C (dpeaa)DE-He213 Lysosomal lipid storage disease (dpeaa)DE-He213 Splenomegaly (dpeaa)DE-He213 Ataxia (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Vertical supranuclear gaze palsy (dpeaa)DE-He213 Gelastic cataplexy (dpeaa)DE-He213 Cognitive impairment (dpeaa)DE-He213 Diagnosis (dpeaa)DE-He213 Klünemann, Hans-Hermann aut Lourenço, Charles M aut Hendriksz, Christian J aut Sedel, Frédéric aut Walterfang, Mark aut Kolb, Stefan A aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 8(2013), 1 vom: 17. Okt. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:8 year:2013 number:1 day:17 month:10 https://dx.doi.org/10.1186/1750-1172-8-166 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2013 1 17 10
language	English
source	Enthalten in Orphanet journal of rare diseases 8(2013), 1 vom: 17. Okt. volume:8 year:2013 number:1 day:17 month:10
sourceStr	Enthalten in Orphanet journal of rare diseases 8(2013), 1 vom: 17. Okt. volume:8 year:2013 number:1 day:17 month:10
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Niemann-Pick disease type C Lysosomal lipid storage disease Splenomegaly Ataxia Dystonia Vertical supranuclear gaze palsy Gelastic cataplexy Cognitive impairment Diagnosis
isfreeaccess_bool	true
container_title	Orphanet journal of rare diseases
authorswithroles_txt_mv	Mengel, Eugen @@aut@@ Klünemann, Hans-Hermann @@aut@@ Lourenço, Charles M @@aut@@ Hendriksz, Christian J @@aut@@ Sedel, Frédéric @@aut@@ Walterfang, Mark @@aut@@ Kolb, Stefan A @@aut@@
publishDateDaySort_date	2013-10-17T00:00:00Z
hierarchy_top_id	50900637X
id	SPR029488192
language_de	englisch
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author	Mengel, Eugen
spellingShingle	Mengel, Eugen misc Niemann-Pick disease type C misc Lysosomal lipid storage disease misc Splenomegaly misc Ataxia misc Dystonia misc Vertical supranuclear gaze palsy misc Gelastic cataplexy misc Cognitive impairment misc Diagnosis Niemann-Pick disease type C symptomatology: an expert-based clinical description
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topic_title	Niemann-Pick disease type C symptomatology: an expert-based clinical description Niemann-Pick disease type C (dpeaa)DE-He213 Lysosomal lipid storage disease (dpeaa)DE-He213 Splenomegaly (dpeaa)DE-He213 Ataxia (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Vertical supranuclear gaze palsy (dpeaa)DE-He213 Gelastic cataplexy (dpeaa)DE-He213 Cognitive impairment (dpeaa)DE-He213 Diagnosis (dpeaa)DE-He213
topic	misc Niemann-Pick disease type C misc Lysosomal lipid storage disease misc Splenomegaly misc Ataxia misc Dystonia misc Vertical supranuclear gaze palsy misc Gelastic cataplexy misc Cognitive impairment misc Diagnosis
topic_unstemmed	misc Niemann-Pick disease type C misc Lysosomal lipid storage disease misc Splenomegaly misc Ataxia misc Dystonia misc Vertical supranuclear gaze palsy misc Gelastic cataplexy misc Cognitive impairment misc Diagnosis
topic_browse	misc Niemann-Pick disease type C misc Lysosomal lipid storage disease misc Splenomegaly misc Ataxia misc Dystonia misc Vertical supranuclear gaze palsy misc Gelastic cataplexy misc Cognitive impairment misc Diagnosis
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title	Niemann-Pick disease type C symptomatology: an expert-based clinical description
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title_full	Niemann-Pick disease type C symptomatology: an expert-based clinical description
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author_browse	Mengel, Eugen Klünemann, Hans-Hermann Lourenço, Charles M Hendriksz, Christian J Sedel, Frédéric Walterfang, Mark Kolb, Stefan A
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doi_str_mv	10.1186/1750-1172-8-166
title_sort	niemann-pick disease type c symptomatology: an expert-based clinical description
title_auth	Niemann-Pick disease type C symptomatology: an expert-based clinical description
abstract	Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. © Mengel et al.; licensee BioMed Central Ltd. 2013
abstractGer	Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. © Mengel et al.; licensee BioMed Central Ltd. 2013
abstract_unstemmed	Abstract Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression. © Mengel et al.; licensee BioMed Central Ltd. 2013
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title_short	Niemann-Pick disease type C symptomatology: an expert-based clinical description
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Niemann-Pick disease type C symptomatology: an expert-based clinical description

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