Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.

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Title:	Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.
Author(s):	Warrenburg, B.P.C. van de ; Lammens, M.M.Y. ; Lucking, C.B.; Denefle, P.; Wesseling, P. ; Booij, J.; Praamstra, P. ; Quinn, N.; Brice, A.; Horstink, M.W.I.M.
Publication year:	2001
Source:	Neurology, vol. 56, iss. 4, (2001), pp. 555--7
ISSN:	0028-3878
Related links:	http://www.neurology.org/cgi/content/abstract/56/4/555
DOI:	https://doi.org/10.1212/WNL.56.4.555
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/122357
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Subject:	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
Organization:	Neurology Pathology Medical Imaging
Journal title:	Neurology
Volume:	vol. 56
Issue:	iss. 4
Page start:	p. 555-
Page end:	p. 7
Abstract:	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.