Subject:
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Inflammatory reactions in the kidneys Neuromuscular and neurometabolic disorders Pathophysiology of Brain and Behaviour Immunologische ontstekingsprocessen in de nier Neuromusculaire en neurometabole aandoeningen Pathofysiologie van Hersenen en Gedrag |
Abstract:
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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.
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