SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings

S. Furtado; M. Farrer; Y. Tsuboi; M. L. Klimek; R. De la Fuente-Fernández; J. Hussey; P. Lockhart; D. B. Calne; O. Suchowersky; A. J. Stoessl; Z. K. Wszolek

doi:10.1212/01.WNL.0000035625.19871.DC

SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings

S. Furtado, M. Farrer, Y. Tsuboi, M. L. Klimek, R. De la Fuente-Fernández, J. Hussey, P. Lockhart, D. B. Calne, O. Suchowersky, A. J. Stoessl, Z. K. Wszolek

Neurology

Research output: Contribution to journal › Review article › peer-review

74 Scopus citations

Abstract

The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.

Original language	English (US)
Pages (from-to)	1625-1627
Number of pages	3
Journal	Neurology
Volume	59
Issue number	10
DOIs	https://doi.org/10.1212/01.WNL.0000035625.19871.DC
State	Published - Nov 26 2002

ASJC Scopus subject areas

Clinical Neurology

Access to Document

10.1212/01.WNL.0000035625.19871.DC

Cite this

@article{0402690e098f42599ddb3b456592c58b,

title = "SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings",

abstract = "The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.",

author = "S. Furtado and M. Farrer and Y. Tsuboi and Klimek, {M. L.} and {De la Fuente-Fern{\'a}ndez}, R. and J. Hussey and P. Lockhart and Calne, {D. B.} and O. Suchowersky and Stoessl, {A. J.} and Wszolek, {Z. K.}",

year = "2002",

month = nov,

day = "26",

doi = "10.1212/01.WNL.0000035625.19871.DC",

language = "English (US)",

volume = "59",

pages = "1625--1627",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "10",

}

TY - JOUR

T1 - SCA-2 presenting as parkinsonism in an Alberta family

T2 - Clinical, genetic, and PET findings

AU - Furtado, S.

AU - Farrer, M.

AU - Tsuboi, Y.

AU - Klimek, M. L.

AU - De la Fuente-Fernández, R.

AU - Hussey, J.

AU - Lockhart, P.

AU - Calne, D. B.

AU - Suchowersky, O.

AU - Stoessl, A. J.

AU - Wszolek, Z. K.

PY - 2002/11/26

Y1 - 2002/11/26

N2 - The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.

AB - The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.

UR - http://www.scopus.com/inward/record.url?scp=0037180520&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037180520&partnerID=8YFLogxK

U2 - 10.1212/01.WNL.0000035625.19871.DC

DO - 10.1212/01.WNL.0000035625.19871.DC

M3 - Review article

C2 - 12451209

AN - SCOPUS:0037180520

SN - 0028-3878

VL - 59

SP - 1625

EP - 1627

JO - Neurology

JF - Neurology

IS - 10

ER -

SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this