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

PP Pramstaller; G Kunig; K Leenders; M Kann; K Hedrich; P Vieregge; CG Goetz; C Klein

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

PP Pramstaller^*, G Kunig, K Leenders, M Kann, K Hedrich, P Vieregge, CG Goetz, C Klein

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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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
Pages (from-to)	808-810
Number of pages	3
Journal	Neurology
Volume	58
Issue number	5
Publication status	Published - 12-Mar-2002

Keywords

DISEASE

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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

T2 - A clinical-genetic and PET study

AU - Pramstaller, PP

AU - Kunig, G

AU - Leenders, K

AU - Kann, M

AU - Hedrich, K

AU - Vieregge, P

AU - Goetz, CG

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.

KW - DISEASE

M3 - Article

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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