LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family

Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings...
Ausführliche Beschreibung

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Autor*in:	Sunita Bijarnia-Mahay [verfasserIn] Gaurav Roy [verfasserIn] Quasar S Padiath [verfasserIn] Renu Saxena [verfasserIn] Ishwar Chander Verma [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	adld adult-onset leukodystrophy autonomic dysfunction lamin b lmnb1

Übergeordnetes Werk:	In: Annals of Indian Academy of Neurology - Wolters Kluwer Medknow Publications, 2006, 24(2021), 3, Seite 413-416
Übergeordnetes Werk:	volume:24 ; year:2021 ; number:3 ; pages:413-416

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.4103/aian.AIAN_1262_20

Katalog-ID:	DOAJ006175732

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520			\|a Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings of diffuse bilaterally symmetrical leukodystrophy which can distinguish this disorder. It is a rare disorder with no known treatment till date, and has never been described from the Indian subcontinent. We present an Indian family with autosomal dominant adult-onset demyelinating leukodystrophy with multiple members affected over four generations, and demonstrate a cheap and accurate molecular method of real-time polymerase chain reaction to detect the LMNB1 gene duplication, which is the genetic basis of this devastating disorder.
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authorswithroles_txt_mv	Sunita Bijarnia-Mahay @@aut@@ Gaurav Roy @@aut@@ Quasar S Padiath @@aut@@ Renu Saxena @@aut@@ Ishwar Chander Verma @@aut@@
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author	Sunita Bijarnia-Mahay
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topic	misc RC346-429 misc adld misc adult-onset leukodystrophy misc autonomic dysfunction misc lamin b misc lmnb1 misc Neurology. Diseases of the nervous system
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title	LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family
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title_sort	lmnb1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an indian family
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title_auth	LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family
abstract	Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings of diffuse bilaterally symmetrical leukodystrophy which can distinguish this disorder. It is a rare disorder with no known treatment till date, and has never been described from the Indian subcontinent. We present an Indian family with autosomal dominant adult-onset demyelinating leukodystrophy with multiple members affected over four generations, and demonstrate a cheap and accurate molecular method of real-time polymerase chain reaction to detect the LMNB1 gene duplication, which is the genetic basis of this devastating disorder.
abstractGer	Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings of diffuse bilaterally symmetrical leukodystrophy which can distinguish this disorder. It is a rare disorder with no known treatment till date, and has never been described from the Indian subcontinent. We present an Indian family with autosomal dominant adult-onset demyelinating leukodystrophy with multiple members affected over four generations, and demonstrate a cheap and accurate molecular method of real-time polymerase chain reaction to detect the LMNB1 gene duplication, which is the genetic basis of this devastating disorder.
abstract_unstemmed	Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings of diffuse bilaterally symmetrical leukodystrophy which can distinguish this disorder. It is a rare disorder with no known treatment till date, and has never been described from the Indian subcontinent. We present an Indian family with autosomal dominant adult-onset demyelinating leukodystrophy with multiple members affected over four generations, and demonstrate a cheap and accurate molecular method of real-time polymerase chain reaction to detect the LMNB1 gene duplication, which is the genetic basis of this devastating disorder.
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title_short	LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family
url	https://doi.org/10.4103/aian.AIAN_1262_20 https://doaj.org/article/53577b6d09c14e0793b760327e84d3e8 http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=3;spage=413;epage=416;aulast=Bijarnia-Mahay https://doaj.org/toc/0972-2327 https://doaj.org/toc/1998-3549
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LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family

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