The inherited ataxias

Roger N. Rosenberg; Pravin Khemani; Vikram G. Shakkottai

doi:10.1016/B978-0-12-813866-3.00005-9

The inherited ataxias

Roger N. Rosenberg, Pravin Khemani, Vikram G. Shakkottai

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

The inherited ataxias are a heterogeneous group of disorders which share core clinical features of dysfunction and often progressive degeneration of the cerebellum and its related pathways. Cerebellar ataxias may be inherited in an autosomal dominant, or recessive manner, with a minority that result from mutations in the mitochondrial genome and thus show maternal inheritance. The molecular basis of these disorders is increasingly being deciphered, so that, classifying based on genotype lends to better understanding of these disorders than previous ones based on clinical features alone.

Original language	English (US)
Title of host publication	Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publication	Volume 2
Publisher	Elsevier
Pages	75-97
Number of pages	23
ISBN (Electronic)	9780128138663
DOIs	https://doi.org/10.1016/B978-0-12-813866-3.00005-9
State	Published - Jan 1 2020

Keywords

Ataxia
CAG repeat
Cerebellar ataxia
Polyglutamine
Repeat expansion

ASJC Scopus subject areas

General Medicine

Access to Document

10.1016/B978-0-12-813866-3.00005-9

Cite this

@inbook{14c5f77091bc4a20849cd7408d4ac8a4,

title = "The inherited ataxias",

abstract = "The inherited ataxias are a heterogeneous group of disorders which share core clinical features of dysfunction and often progressive degeneration of the cerebellum and its related pathways. Cerebellar ataxias may be inherited in an autosomal dominant, or recessive manner, with a minority that result from mutations in the mitochondrial genome and thus show maternal inheritance. The molecular basis of these disorders is increasingly being deciphered, so that, classifying based on genotype lends to better understanding of these disorders than previous ones based on clinical features alone.",

keywords = "Ataxia, CAG repeat, Cerebellar ataxia, Polyglutamine, Repeat expansion",

author = "Rosenberg, {Roger N.} and Pravin Khemani and Shakkottai, {Vikram G.}",

year = "2020",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-813866-3.00005-9",

language = "English (US)",

pages = "75--97",

booktitle = "Rosenberg{\textquoteright}s Molecular and Genetic Basis of Neurological and Psychiatric Disease",

publisher = "Elsevier",

}

TY - CHAP

T1 - The inherited ataxias

AU - Rosenberg, Roger N.

AU - Khemani, Pravin

AU - Shakkottai, Vikram G.

PY - 2020/1/1

Y1 - 2020/1/1

N2 - The inherited ataxias are a heterogeneous group of disorders which share core clinical features of dysfunction and often progressive degeneration of the cerebellum and its related pathways. Cerebellar ataxias may be inherited in an autosomal dominant, or recessive manner, with a minority that result from mutations in the mitochondrial genome and thus show maternal inheritance. The molecular basis of these disorders is increasingly being deciphered, so that, classifying based on genotype lends to better understanding of these disorders than previous ones based on clinical features alone.

AB - The inherited ataxias are a heterogeneous group of disorders which share core clinical features of dysfunction and often progressive degeneration of the cerebellum and its related pathways. Cerebellar ataxias may be inherited in an autosomal dominant, or recessive manner, with a minority that result from mutations in the mitochondrial genome and thus show maternal inheritance. The molecular basis of these disorders is increasingly being deciphered, so that, classifying based on genotype lends to better understanding of these disorders than previous ones based on clinical features alone.

KW - Ataxia

KW - CAG repeat

KW - Cerebellar ataxia

KW - Polyglutamine

KW - Repeat expansion

UR - http://www.scopus.com/inward/record.url?scp=85124930878&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85124930878&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-813866-3.00005-9

DO - 10.1016/B978-0-12-813866-3.00005-9

M3 - Chapter

AN - SCOPUS:85124930878

SP - 75

EP - 97

BT - Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease

PB - Elsevier

ER -

The inherited ataxias

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this