SCA6

B. L. Fogel; J. C. Jen

doi:10.1016/B978-0-12-374105-9.00208-2

SCA6

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Spinocerebellar ataxia type 6 (SCA6) is a hereditary neurodegenerative disease causing late-onset progressive cerebellar ataxia. SCA6 is associated with a trinucleotide expansion within the CACNA1A gene encoding Ca_v2.1, the α₁-subunit of a neuronal P/Q-type voltage-gated calcium channel. This chapter discusses the pathogenesis, diagnosis, and management of SCA6.

Original language	English
Title of host publication	Encyclopedia of Movement Disorders, Three-Volume Set
Publisher	Elsevier
Pages	V3-72-V3-74
ISBN (Electronic)	9780123741059
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00208-2
State	Published - 1 Jan 2010
Externally published	Yes

Keywords

Ataxia
Ca2.1
CACNA1A protein
Cerebellar ataxia
dominant
Episodic ataxia
Familial hemiplegic migraine
Genes
human
P/Q-type voltage-dependent calcium channels (P-Q type VDCC)
Polyglutamine expansion
Spinocerebellar ataxia type 6
Spinocerebellar ataxias
Trinucleotide repeat expansion

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10.1016/B978-0-12-374105-9.00208-2

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title = "SCA6",

abstract = "Spinocerebellar ataxia type 6 (SCA6) is a hereditary neurodegenerative disease causing late-onset progressive cerebellar ataxia. SCA6 is associated with a trinucleotide expansion within the CACNA1A gene encoding Cav2.1, the α1-subunit of a neuronal P/Q-type voltage-gated calcium channel. This chapter discusses the pathogenesis, diagnosis, and management of SCA6.",

keywords = "Ataxia, Ca2.1, CACNA1A protein, Cerebellar ataxia, dominant, Episodic ataxia, Familial hemiplegic migraine, Genes, human, P/Q-type voltage-dependent calcium channels (P-Q type VDCC), Polyglutamine expansion, Spinocerebellar ataxia type 6, Spinocerebellar ataxias, Trinucleotide repeat expansion",

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year = "2010",

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doi = "10.1016/B978-0-12-374105-9.00208-2",

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T1 - SCA6

AU - Fogel, B. L.

AU - Jen, J. C.

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Spinocerebellar ataxia type 6 (SCA6) is a hereditary neurodegenerative disease causing late-onset progressive cerebellar ataxia. SCA6 is associated with a trinucleotide expansion within the CACNA1A gene encoding Cav2.1, the α1-subunit of a neuronal P/Q-type voltage-gated calcium channel. This chapter discusses the pathogenesis, diagnosis, and management of SCA6.

AB - Spinocerebellar ataxia type 6 (SCA6) is a hereditary neurodegenerative disease causing late-onset progressive cerebellar ataxia. SCA6 is associated with a trinucleotide expansion within the CACNA1A gene encoding Cav2.1, the α1-subunit of a neuronal P/Q-type voltage-gated calcium channel. This chapter discusses the pathogenesis, diagnosis, and management of SCA6.

KW - Ataxia

KW - Ca2.1

KW - CACNA1A protein

KW - Cerebellar ataxia

KW - dominant

KW - Episodic ataxia

KW - Familial hemiplegic migraine

KW - Genes

KW - human

KW - P/Q-type voltage-dependent calcium channels (P-Q type VDCC)

KW - Polyglutamine expansion

KW - Spinocerebellar ataxia type 6

KW - Spinocerebellar ataxias

KW - Trinucleotide repeat expansion

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U2 - 10.1016/B978-0-12-374105-9.00208-2

DO - 10.1016/B978-0-12-374105-9.00208-2

M3 - Chapter

AN - SCOPUS:85184550200

SP - V3-72-V3-74

BT - Encyclopedia of Movement Disorders, Three-Volume Set

PB - Elsevier

ER -

SCA6

Abstract

Keywords

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