Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family

Journal of Neurology

Volumn 261, Issue 4, 2014, Pages 823-824

  Picillo, Marina ^a   Ranieri, Angelo ^a   Orefice, Giuseppe ^a   Bonifati, Vincenzo ^b   Barone, Paolo ^c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF SALERNO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE RECEPTOR STIMULATING AGENT; SYNAPTOJANIN; SYNAPTOJANIN 1; UNCLASSIFIED DRUG; PHOSPHATASE; PHOSPHOINOSITIDE 5-PHOSPHATASE;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE COURSE; DISEASE SEVERITY; DYSTONIA; EARLY ONSET ATYPICAL PARKINSONISM; FAMILY; FOLLOW UP; GENE MUTATION; HUMAN; HYPOTENSION; IRAN; ITALY; LETTER; MINI MENTAL STATE EXAMINATION; NEUROLOGIC DISEASE; PARKINSONISM; PRIORITY JOURNAL; SIBLING; UNIFIED PARKINSON DISEASE RATING SCALE; ADULT; CASE REPORT; FEMALE; GENETICS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PATHOLOGY;

ADULT; DISEASE PROGRESSION; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PHOSPHORIC MONOESTER HYDROLASES;

EID: 84898923433     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7270-6     Document Type: Letter

References (3)

1. Singleton AB, Farrer MJ, Bonifati V (2013) The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord 28(1):14-23
2. Quadri M, Fang M, Picillo M et al (2013) Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism. Hum Mutat 34(9):1208-1215
3. Krebs CE, Karkheiran S, Powell JC et al (2013) The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures. Hum Mutat 34(9):1200-1207