Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview
Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Caciotti, Anna [verfasserIn] Melani, Federico [verfasserIn] Tonin, Rodolfo [verfasserIn] Cellai, Lucrezia [verfasserIn] Catarzi, Serena [verfasserIn] Procopio, Elena [verfasserIn] Chilleri, Chiara [verfasserIn] Mavridou, Irene [verfasserIn] Michelakakis, Helen [verfasserIn] Fioravanti, Antonella [verfasserIn] d’Azzo, Alessandra [verfasserIn] Guerrini, Renzo [verfasserIn] Morrone, Amelia [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2019 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Molecular genetics and metabolism - Orlando, Fla. : Academic Press, 1998, 129, Seite 47-58 |
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| Übergeordnetes Werk: |
volume:129 ; pages:47-58 |
| DOI / URN: |
10.1016/j.ymgme.2019.09.005 |
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| 245 | 1 | 0 | |a Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview |
| 264 | 1 | |c 2019 | |
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| 520 | |a Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. | ||
| 650 | 4 | |a sialidosis | |
| 650 | 4 | |a alpha-N-acetyl neuraminidase 1 (NEU1) | |
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| 700 | 1 | |a Melani, Federico |e verfasserin |4 aut | |
| 700 | 1 | |a Tonin, Rodolfo |e verfasserin |4 aut | |
| 700 | 1 | |a Cellai, Lucrezia |e verfasserin |4 aut | |
| 700 | 1 | |a Catarzi, Serena |e verfasserin |4 aut | |
| 700 | 1 | |a Procopio, Elena |e verfasserin |4 aut | |
| 700 | 1 | |a Chilleri, Chiara |e verfasserin |4 aut | |
| 700 | 1 | |a Mavridou, Irene |e verfasserin |4 aut | |
| 700 | 1 | |a Michelakakis, Helen |e verfasserin |4 aut | |
| 700 | 1 | |a Fioravanti, Antonella |e verfasserin |4 aut | |
| 700 | 1 | |a d’Azzo, Alessandra |e verfasserin |4 aut | |
| 700 | 1 | |a Guerrini, Renzo |e verfasserin |4 aut | |
| 700 | 1 | |a Morrone, Amelia |e verfasserin |4 aut | |
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10.1016/j.ymgme.2019.09.005 doi (DE-627)ELV003574148 (ELSEVIER)S1096-7192(19)30537-2 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. sialidosis alpha-N-acetyl neuraminidase 1 (NEU1) cherry red spots myoclonus Asp-Box regions Melani, Federico verfasserin aut Tonin, Rodolfo verfasserin aut Cellai, Lucrezia verfasserin aut Catarzi, Serena verfasserin aut Procopio, Elena verfasserin aut Chilleri, Chiara verfasserin aut Mavridou, Irene verfasserin aut Michelakakis, Helen verfasserin aut Fioravanti, Antonella verfasserin aut d’Azzo, Alessandra verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 129, Seite 47-58 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:129 pages:47-58 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 129 47-58 |
| spelling |
10.1016/j.ymgme.2019.09.005 doi (DE-627)ELV003574148 (ELSEVIER)S1096-7192(19)30537-2 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. sialidosis alpha-N-acetyl neuraminidase 1 (NEU1) cherry red spots myoclonus Asp-Box regions Melani, Federico verfasserin aut Tonin, Rodolfo verfasserin aut Cellai, Lucrezia verfasserin aut Catarzi, Serena verfasserin aut Procopio, Elena verfasserin aut Chilleri, Chiara verfasserin aut Mavridou, Irene verfasserin aut Michelakakis, Helen verfasserin aut Fioravanti, Antonella verfasserin aut d’Azzo, Alessandra verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 129, Seite 47-58 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:129 pages:47-58 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 129 47-58 |
| allfields_unstemmed |
10.1016/j.ymgme.2019.09.005 doi (DE-627)ELV003574148 (ELSEVIER)S1096-7192(19)30537-2 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. sialidosis alpha-N-acetyl neuraminidase 1 (NEU1) cherry red spots myoclonus Asp-Box regions Melani, Federico verfasserin aut Tonin, Rodolfo verfasserin aut Cellai, Lucrezia verfasserin aut Catarzi, Serena verfasserin aut Procopio, Elena verfasserin aut Chilleri, Chiara verfasserin aut Mavridou, Irene verfasserin aut Michelakakis, Helen verfasserin aut Fioravanti, Antonella verfasserin aut d’Azzo, Alessandra verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 129, Seite 47-58 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:129 pages:47-58 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 129 47-58 |
| allfieldsGer |
10.1016/j.ymgme.2019.09.005 doi (DE-627)ELV003574148 (ELSEVIER)S1096-7192(19)30537-2 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. sialidosis alpha-N-acetyl neuraminidase 1 (NEU1) cherry red spots myoclonus Asp-Box regions Melani, Federico verfasserin aut Tonin, Rodolfo verfasserin aut Cellai, Lucrezia verfasserin aut Catarzi, Serena verfasserin aut Procopio, Elena verfasserin aut Chilleri, Chiara verfasserin aut Mavridou, Irene verfasserin aut Michelakakis, Helen verfasserin aut Fioravanti, Antonella verfasserin aut d’Azzo, Alessandra verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 129, Seite 47-58 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:129 pages:47-58 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 129 47-58 |
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10.1016/j.ymgme.2019.09.005 doi (DE-627)ELV003574148 (ELSEVIER)S1096-7192(19)30537-2 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. sialidosis alpha-N-acetyl neuraminidase 1 (NEU1) cherry red spots myoclonus Asp-Box regions Melani, Federico verfasserin aut Tonin, Rodolfo verfasserin aut Cellai, Lucrezia verfasserin aut Catarzi, Serena verfasserin aut Procopio, Elena verfasserin aut Chilleri, Chiara verfasserin aut Mavridou, Irene verfasserin aut Michelakakis, Helen verfasserin aut Fioravanti, Antonella verfasserin aut d’Azzo, Alessandra verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 129, Seite 47-58 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:129 pages:47-58 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 129 47-58 |
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Enthalten in Molecular genetics and metabolism 129, Seite 47-58 volume:129 pages:47-58 |
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Enthalten in Molecular genetics and metabolism 129, Seite 47-58 volume:129 pages:47-58 |
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sialidosis alpha-N-acetyl neuraminidase 1 (NEU1) cherry red spots myoclonus Asp-Box regions |
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Caciotti, Anna @@aut@@ Melani, Federico @@aut@@ Tonin, Rodolfo @@aut@@ Cellai, Lucrezia @@aut@@ Catarzi, Serena @@aut@@ Procopio, Elena @@aut@@ Chilleri, Chiara @@aut@@ Mavridou, Irene @@aut@@ Michelakakis, Helen @@aut@@ Fioravanti, Antonella @@aut@@ d’Azzo, Alessandra @@aut@@ Guerrini, Renzo @@aut@@ Morrone, Amelia @@aut@@ |
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2019-01-01T00:00:00Z |
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Caciotti, Anna Melani, Federico Tonin, Rodolfo Cellai, Lucrezia Catarzi, Serena Procopio, Elena Chilleri, Chiara Mavridou, Irene Michelakakis, Helen Fioravanti, Antonella d’Azzo, Alessandra Guerrini, Renzo Morrone, Amelia |
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type i sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: an overview |
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Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview |
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Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. |
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Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. |
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Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I and type II, are known. The dysmorphic type II form features LSD symptoms including congenital hydrops, dysmorphogenetic traits, hepato-splenomegaly and severe intellectual disability. The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. |
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Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview |
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|
| score |
7.401595 |