Huntington's disease-like 2 in Brazil - Report of 4 patients

Guilherme G.Riccioppo Rodrigues; Ruth H. Walker; Alexis Brice; Cécile Cazeneuve; Odile Russaouen; Helio A.G. Teive; Renato Puppi Munhoz; Nilson Becker; Salmo Raskin; Lineu Cesar Werneck; Wilson Marques; Vitor Tumas

doi:10.1002/mds.22223

Huntington's disease-like 2 in Brazil - Report of 4 patients

Guilherme G.Riccioppo Rodrigues, Ruth H. Walker, Alexis Brice, Cécile Cazeneuve, Odile Russaouen, Helio A.G. Teive, Renato Puppi Munhoz, Nilson Becker, Salmo Raskin, Lineu Cesar Werneck, Wilson Marques, Vitor Tumas

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23 Scopus citations

Abstract

Huntington's disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.

Original language	English
Pages (from-to)	2244-2247
Number of pages	4
Journal	Movement Disorders
Volume	23
Issue number	15
DOIs	https://doi.org/10.1002/mds.22223
State	Published - 15 Nov 2008

Keywords

Huntington's disease
Huntington's disease like
Junctophilin 3

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abstract = "Huntington's disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.",

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AU - Rodrigues, Guilherme G.Riccioppo

AU - Walker, Ruth H.

AU - Brice, Alexis

AU - Cazeneuve, Cécile

AU - Russaouen, Odile

AU - Teive, Helio A.G.

AU - Munhoz, Renato Puppi

AU - Becker, Nilson

AU - Raskin, Salmo

AU - Werneck, Lineu Cesar

AU - Marques, Wilson

AU - Tumas, Vitor

PY - 2008/11/15

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AB - Huntington's disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.

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JO - Movement Disorders

JF - Movement Disorders

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ER -

Huntington's disease-like 2 in Brazil - Report of 4 patients

Abstract

Keywords

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