The Inherited Ataxias

Roger N. Rosenberg; Pravin Khemani

doi:10.1016/B978-0-12-410529-4.00071-1

The Inherited Ataxias

Roger N. Rosenberg, Pravin Khemani

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

2 Scopus citations

Abstract

Of the syndromes constituting the inherited ataxias, some show autosomal dominant or recessive inheritance, and others are caused by mitochondrial mutations and thus show maternal inheritance. Significant progress has been made in defining the molecular basis of these syndromes, so that a genotype classification now supersedes 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	Fifth Edition
Publisher	Elsevier Inc.
Pages	811-832
Number of pages	22
ISBN (Electronic)	9780124105294
ISBN (Print)	9780124105492
DOIs	https://doi.org/10.1016/B978-0-12-410529-4.00071-1
State	Published - Nov 13 2014

Keywords

Ataxia
CAG unstable DNA repeats
Episodic ataxias
Genotype classification
Repeat expansion diseases

ASJC Scopus subject areas

General Medicine

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10.1016/B978-0-12-410529-4.00071-1

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title = "The Inherited Ataxias",

abstract = "Of the syndromes constituting the inherited ataxias, some show autosomal dominant or recessive inheritance, and others are caused by mitochondrial mutations and thus show maternal inheritance. Significant progress has been made in defining the molecular basis of these syndromes, so that a genotype classification now supersedes previous ones based on clinical features alone.",

keywords = "Ataxia, CAG unstable DNA repeats, Episodic ataxias, Genotype classification, Repeat expansion diseases",

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

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T1 - The Inherited Ataxias

AU - Rosenberg, Roger N.

AU - Khemani, Pravin

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N2 - Of the syndromes constituting the inherited ataxias, some show autosomal dominant or recessive inheritance, and others are caused by mitochondrial mutations and thus show maternal inheritance. Significant progress has been made in defining the molecular basis of these syndromes, so that a genotype classification now supersedes previous ones based on clinical features alone.

AB - Of the syndromes constituting the inherited ataxias, some show autosomal dominant or recessive inheritance, and others are caused by mitochondrial mutations and thus show maternal inheritance. Significant progress has been made in defining the molecular basis of these syndromes, so that a genotype classification now supersedes previous ones based on clinical features alone.

KW - Ataxia

KW - CAG unstable DNA repeats

KW - Episodic ataxias

KW - Genotype classification

KW - Repeat expansion diseases

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M3 - Chapter

AN - SCOPUS:84943226262

SN - 9780124105492

SP - 811

EP - 832

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

PB - Elsevier Inc.

ER -

The Inherited Ataxias

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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