Complicated recessive dystonia parkinsonism syndromes.

نویسندگان

  • Susanne A Schneider
  • Kailash P Bhatia
  • John Hardy
چکیده

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.

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عنوان ژورنال:
  • Movement disorders : official journal of the Movement Disorder Society

دوره 24 4  شماره 

صفحات  -

تاریخ انتشار 2009