Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci.
OBJECTIVE
We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2.


METHODS
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.
Krygowska-Wajs
Anna
A
Department of Neurology, Collegium Medicum, Jagiellonian University, Cracow, Poland.
Hussey
Jennifer M
JM
Hulihan
Mary
M
Farrer
Matthew J
MJ
Tsuboi
Yoshio
Y
Uitti
Ryan J
RJ
Wszolek
Zbigniew K
ZK
D000203:Activities of Daily Living; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D003704:Dementia / Q000209:etiology; D018450:Disease Progression; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D020734:Parkinsonian Disorders / Q000150:complications / Q000188:drug therapy* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011044:Poland; D014549:Urinary Incontinence / Q000209:etiology
D000978:Antiparkinson Agents; D007980:Levodopa