The inherited ataxias

Roger N. Rosenberg; Vikram G. Shakkottai

doi:10.1016/B978-0-443-19176-3.00007-8

The inherited ataxias

Roger N. Rosenberg, Vikram G. Shakkottai

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

1 Scopus citations

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, Seventh Edition
Subtitle of host publication	Volume 2
Publisher	Elsevier
Pages	83-106
Number of pages	24
Volume	2
ISBN (Electronic)	9780443191763
ISBN (Print)	9780443191770
DOIs	https://doi.org/10.1016/B978-0-443-19176-3.00007-8
State	Published - Jan 1 2024

Keywords

CAG repeat
Cerebellar ataxia
ataxia
polyglutamine
repeat expansion

ASJC Scopus subject areas

General Medicine

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10.1016/B978-0-443-19176-3.00007-8

Cite this

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AU - Shakkottai, Vikram G.

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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 - CAG repeat

KW - Cerebellar ataxia

KW - ataxia

KW - polyglutamine

KW - repeat expansion

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M3 - Chapter

AN - SCOPUS:85213505505

SN - 9780443191770

VL - 2

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BT - Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition

PB - Elsevier

ER -

The inherited ataxias

Abstract

Keywords

ASJC Scopus subject areas

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