Neuropathology of a case of doparesponsive dystonia associated with a new genetic locus, DYT14

Neurology

Volumn 58, Issue 12, 2002, Pages 1839-1842

  Grotzsch H ^a   Pizzolato, G P ^a   Ghika, J ^b   Schorderet, D ^b   Vingerhoets, F J ^b   Landis, T ^a   Burkhard, P R ^a,c  

^a UNIVERSITY HOSPITAL   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MELANIN; PROTEIN DYT14; UNCLASSIFIED DRUG; ANTIPARKINSON AGENT; LEVODOPA;

AGED; ARTICLE; AUTOPSY; CASE REPORT; CELL LOSS; CHROMOSOME 14Q; DISEASE ASSOCIATION; DISEASE SEVERITY; DOPA RESPONSIVE DYSTONIA; DOPAMINERGIC NERVE CELL; DOSE RESPONSE; DYSTONIA; FEMALE; GENE LOCUS; GENOTYPE; HUMAN; HYPOMELANOSIS; LEWY BODY; LOCUS CERULEUS; NERVE CELL; NEUROPATHOLOGY; PRIORITY JOURNAL; SUBSTANTIA NIGRA; COMPARATIVE STUDY; GENETICS; MALE; PATHOLOGY; PEDIGREE;

AGED; ANTIPARKINSON AGENTS; DYSTONIA; FEMALE; HUMANS; LEVODOPA; MALE; PEDIGREE; SUBSTANTIA NIGRA;

EID: 0037172668     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.12.1839     Document Type: Article

References (8)

1. Dopa-responsive dystonia
2. Molecular genetics of dopa-responsive dystonia
3. Molecular and biochemical aspects of hereditary progressive and doparesponsive dystonia
4. Dopa-responsive dystonia: Pathological and biochemical observations in a case
5. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
6. Hereditary dystonia-parkinsonism syndrome of juvenile onset
7. The substantia nigra of the human brain. II. Pattern of loss of dopaminecontaining neurons in Parkinson's disease
8. Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations?