Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study

P. P. Pramstaller; G. Künig; K. Leenders; M. Kann; K. Hedrich; P. Vieregge; C. G. Goetz; C. Klein

doi:10.1212/WNL.58.5.808

Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study

P. P. Pramstaller^*, G. Künig, K. Leenders, M. Kann, K. Hedrich, P. Vieregge, C. G. Goetz, C. Klein

^*Corresponding author for this work

Institute of Neurogenetics

32 Citations (Scopus)

Abstract

The authors describe a 37-year-old woman with early-onset hemiparkinsonism (HP) and ipsilateral body hemiatrophy (HA). Genetic analysis revealed a missense mutation (Arg275Trp) and a duplication of exon 7 of parkin. The complementary metabolic and receptor pattern of PET ligands corresponded to that typically found in idiopathic PD, although tracer binding asymmetry was lacking. Parkin mutations should be considered in HPHA, particularly when there is a younger age at onset and dystonia is an early sign.

Original language	English
Journal	Neurology
Volume	58
Issue number	5
Pages (from-to)	808-810
Number of pages	3
ISSN	0028-3878
DOIs	https://doi.org/10.1212/WNL.58.5.808
Publication status	Published - 12.03.2002

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title = "Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study",

abstract = "The authors describe a 37-year-old woman with early-onset hemiparkinsonism (HP) and ipsilateral body hemiatrophy (HA). Genetic analysis revealed a missense mutation (Arg275Trp) and a duplication of exon 7 of parkin. The complementary metabolic and receptor pattern of PET ligands corresponded to that typically found in idiopathic PD, although tracer binding asymmetry was lacking. Parkin mutations should be considered in HPHA, particularly when there is a younger age at onset and dystonia is an early sign.",

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T1 - Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study

AU - Pramstaller, P. P.

AU - Künig, G.

AU - Leenders, K.

AU - Kann, M.

AU - Hedrich, K.

AU - Vieregge, P.

AU - Goetz, C. G.

AU - Klein, C.

PY - 2002/3/12

Y1 - 2002/3/12

N2 - The authors describe a 37-year-old woman with early-onset hemiparkinsonism (HP) and ipsilateral body hemiatrophy (HA). Genetic analysis revealed a missense mutation (Arg275Trp) and a duplication of exon 7 of parkin. The complementary metabolic and receptor pattern of PET ligands corresponded to that typically found in idiopathic PD, although tracer binding asymmetry was lacking. Parkin mutations should be considered in HPHA, particularly when there is a younger age at onset and dystonia is an early sign.

AB - The authors describe a 37-year-old woman with early-onset hemiparkinsonism (HP) and ipsilateral body hemiatrophy (HA). Genetic analysis revealed a missense mutation (Arg275Trp) and a duplication of exon 7 of parkin. The complementary metabolic and receptor pattern of PET ligands corresponded to that typically found in idiopathic PD, although tracer binding asymmetry was lacking. Parkin mutations should be considered in HPHA, particularly when there is a younger age at onset and dystonia is an early sign.

UR - https://www.scopus.com/pages/publications/0037066112

U2 - 10.1212/WNL.58.5.808

DO - 10.1212/WNL.58.5.808

M3 - Journal articles

C2 - 11889248

AN - SCOPUS:0037066112

SN - 0028-3878

VL - 58

SP - 808

EP - 810

JO - Neurology

JF - Neurology

IS - 5

ER -

Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study

Abstract

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