Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.
A Dutch family with autosomal recessive early-onset parkinsonism showed a heterozygous missense mutation in combination with a heterozygous exon deletion in the parkin gene. Although the main clinical syndrome consisted of parkinsonism, the proband clinically had additional mild gait ataxia and pathologically showed neuronal loss in parts of the spinocerebellar system, in addition to selective loss of dopaminergic neurons in the substantia nigra pars compacta. Lewy bodies and neurofibrillary tangles were absent, but tau pathology was found.
van de Warrenburg
B P
BP
Department of Neurology, University Medical Center, Nijmegen, The Netherlands.
Lammens
M
M
Lücking
C B
CB
Denèfle
P
P
Wesseling
P
P
Booij
J
J
Praamstra
P
P
Quinn
N
N
Brice
A
A
Horstink
M W
MW
D000368:Aged; D001253:Astrocytes / Q000473:pathology; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D009426:Netherlands; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases; D016875:tau Proteins / Q000032:analysis
D016875:tau Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases