Complicated recessive dystonia parkinsonism syndromes.

Susanne A Schneider, Kailash P Bhatia, John Hardy

Journal: Movement disorders : official journal of the Movement Disorder Society 2009;24(4):490-9

PMID: 19185014

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Abstract

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

Address: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom.

DOI: 10.1002/mds.22314

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MeSH Terms: Brain, Diagnosis, Differential, Dystonia, F-Box Proteins, Group VI Phospholipases A2, Histone Acetyltransferases, Humans, Intracellular Signaling Peptides and Proteins, Iron, Mutation, Neurodegenerative Diseases, Oncogene Proteins, Parkinsonian Disorders, Protein Deglycase DJ-1, Protein Kinases, TATA-Binding Protein Associated Factors, Transcription Factor TFIID, Ubiquitin-Protein Ligases