Journal
MOVEMENT DISORDERS
Volume 24, Issue 14, Pages 2042-2058Publisher
WILEY
DOI: 10.1002/mds.22675
Keywords
Parkinson; PARK; genetics; dystonia; classification
Categories
Funding
- Volkswagen Foundation
- Hermann and Lilly Schilling Foundation
- Deutsche Forschungsgemeinschaft DFG
- Brain Research Trust, UK
- University Lubeck
- Novartis Foundation for Therapeutic Research
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In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the PARK genes; (ii) classical parkinsonism due to mutations in other than-PARK genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even ail isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2. PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMRI, MAPT, GRN, ATP7B. PANK2, FBX07, CHAC, FTL1, Huntingtin JPH3 genes, and a number of even rarer, miscellaneous conditions. (C) 2009 Movement Disorder Society
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