Huntington’s Disease-like 2

R. L. Margolis; Dobrila Rudnicki; Susan Elizabeth Holmes

doi:10.1016/B978-0-12-374105-9.00404-4

Huntington’s Disease-like 2

R. L. Margolis
, Dobrila Rudnicki
, Susan Elizabeth Holmes

School of Medicine

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

Abstract

Huntington’s disease-like 2 (HDL2) is a rare, autosomal dominant, adult-onset, progressive neurodegenerative disorder, genetically, clinically, and pathologically nearly indistinguishable from Huntington’s disease (HD). HDL2 is caused by a trinucleotide repeat expansion detectable by genetic testing. Understanding HDL2 may provide clues to the pathogenesis of HD and other neurodegenerative diseases.

Original language	English (US)
Title of host publication	Encyclopedia of Movement Disorders, Three-Volume Set
Publisher	Elsevier
Pages	V2-36-V2-38
ISBN (Electronic)	9780123741059
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00404-4
State	Published - Jan 1 2010

Keywords

Atrophy
Caudate
Chorea
Dementia
Dominant
Familial
Hereditary
Huntington
Junctophilin
Neurodegeneration
Neurotoxicity
Repeat
RNA
Striatum
Trinucleotide

ASJC Scopus subject areas

General Medicine
General Neuroscience

Access to Document

10.1016/B978-0-12-374105-9.00404-4

Cite this

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abstract = "Huntington{\textquoteright}s disease-like 2 (HDL2) is a rare, autosomal dominant, adult-onset, progressive neurodegenerative disorder, genetically, clinically, and pathologically nearly indistinguishable from Huntington{\textquoteright}s disease (HD). HDL2 is caused by a trinucleotide repeat expansion detectable by genetic testing. Understanding HDL2 may provide clues to the pathogenesis of HD and other neurodegenerative diseases.",

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doi = "10.1016/B978-0-12-374105-9.00404-4",

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AU - Margolis, R. L.

AU - Rudnicki, Dobrila

AU - Holmes, Susan Elizabeth

PY - 2010/1/1

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N2 - Huntington’s disease-like 2 (HDL2) is a rare, autosomal dominant, adult-onset, progressive neurodegenerative disorder, genetically, clinically, and pathologically nearly indistinguishable from Huntington’s disease (HD). HDL2 is caused by a trinucleotide repeat expansion detectable by genetic testing. Understanding HDL2 may provide clues to the pathogenesis of HD and other neurodegenerative diseases.

AB - Huntington’s disease-like 2 (HDL2) is a rare, autosomal dominant, adult-onset, progressive neurodegenerative disorder, genetically, clinically, and pathologically nearly indistinguishable from Huntington’s disease (HD). HDL2 is caused by a trinucleotide repeat expansion detectable by genetic testing. Understanding HDL2 may provide clues to the pathogenesis of HD and other neurodegenerative diseases.

KW - Atrophy

KW - Caudate

KW - Chorea

KW - Dementia

KW - Dominant

KW - Familial

KW - Hereditary

KW - Huntington

KW - Junctophilin

KW - Neurodegeneration

KW - Neurotoxicity

KW - Repeat

KW - RNA

KW - Striatum

KW - Trinucleotide

UR - https://www.scopus.com/pages/publications/85184530790

UR - https://www.scopus.com/pages/publications/85184530790#tab=citedBy

U2 - 10.1016/B978-0-12-374105-9.00404-4

DO - 10.1016/B978-0-12-374105-9.00404-4

M3 - Chapter

AN - SCOPUS:85184530790

SP - V2-36-V2-38

BT - Encyclopedia of Movement Disorders, Three-Volume Set

PB - Elsevier

ER -

Huntington’s Disease-like 2

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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