Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci

Anna Krygowska-Wajs; Jennifer M. Hussey; Mary Hulihan; Matthew J. Farrer; Yoshio Tsuboi; Ryan J. Uitti; Zbigniew K. Wszolek

doi:10.1016/S1353-8020(02)00036-6

Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci

Anna Krygowska-Wajs, Jennifer M. Hussey, Mary Hulihan, Matthew J. Farrer, Yoshio Tsuboi, Ryan J. Uitti, Zbigniew K. Wszolek

Neurology

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

2 Scopus citations

Abstract

Purpose. We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2. Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism. Conclusions. The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures.

Original language	English (US)
Pages (from-to)	193-200
Number of pages	8
Journal	Parkinsonism and Related Disorders
Volume	9
Issue number	4
DOIs	https://doi.org/10.1016/S1353-8020(02)00036-6
State	Published - Mar 2003

Keywords

Anticipation
Autosomal dominant inheritance
Familial Parkinson's disease
Molecular genetics

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/S1353-8020(02)00036-6

Cite this

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title = "Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci",

abstract = "Purpose. We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2. Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism. Conclusions. The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures.",

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AU - Krygowska-Wajs, Anna

AU - Hussey, Jennifer M.

AU - Hulihan, Mary

AU - Farrer, Matthew J.

AU - Tsuboi, Yoshio

AU - Uitti, Ryan J.

AU - Wszolek, Zbigniew K.

PY - 2003/3

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AB - Purpose. We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2. Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism. Conclusions. The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures.

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Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci

Abstract

Keywords

ASJC Scopus subject areas

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