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Complicated recessive dystonia parkinsonism syndromes
Author(s) -
Schneider Susanne A.,
Bhatia Kailash P.,
Hardy John
Publication year - 2009
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22314
Subject(s) - dystonia , parkinsonism , essential tremor , medicine , parkin , differential diagnosis , movement disorders , neuroscience , bioinformatics , pediatrics , genetics , parkinson's disease , psychiatry , biology , pathology , disease
In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene‐proven cases. We concentrate on PANK2 ‐, PLA2G6 ‐, ATP13A2 ‐, FBX07 , TAF1 ‐, and PRKRA ‐associated neurodegeneration. Parkin , PINK1 , and DJ‐1 are also briefly reviewed. © 2009 Movement Disorder Society