An autopsy case of multiple system atrophy with a heteroallelic ceruloplasmin gene mutation

Clinical Neurology

Volumn 43, Issue 7, 2003, Pages 398-402

  Yomono, Harumi ^a   Kurisaki, Hiroshi ^a   Murayama, Shigeo ^a   Hebisawa, Akira ^a   Miyajima, Hiroaki ^a   Takahashi, Yoshiaki ^a  

^a NONE

Author keywords

Ceruloplasmin gene mutation; Hypoceruloplasminemia; Multiple system atrophy

Indexed keywords

ALPHA SYNUCLEIN; ANTIPARKINSON AGENT; CERULOPLASMIN; COPPER; GLUTAMINE; GLYCINE;

AGED; AKINESIA; ALLELISM; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; BLADDER DYSFUNCTION; BRAIN ATROPHY; CAUDATE NUCLEUS; CELL INCLUSION; CELL LOSS; CEREBELLUM; CLINICAL FEATURE; COPPER BLOOD LEVEL; DISEASE ASSOCIATION; DYSARTHRIA; FEMALE; GAIT DISORDER; GENE MUTATION; GLIA CELL; GLIOSIS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IRON STORAGE; MISSENSE MUTATION; MUSCLE RIGIDITY; MYELINATED NERVE; NEUROPATHOLOGY; ORTHOSTATIC HYPOTENSION; PARKINSONISM; PONS; PURKINJE CELL; PUTAMEN; RESPIRATORY FAILURE; SACCADIC EYE MOVEMENT; SHY DRAGER SYNDROME; SILVER STAINING; STRIATONIGRAL DEGENERATION; SUBSTANTIA NIGRA; THALAMUS; TREMOR;

AGED; CERULOPLASMIN; FEMALE; HUMANS; MULTIPLE SYSTEM ATROPHY; MUTATION, MISSENSE;

EID: 0142056050     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Daimon M, Susa S, Ohizumi T, et al: A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (Hypo CPGM). Tohoku Journal of Experimental Medicine 2000: 191: 119-125
2. Miyajima H, Kono S, Takahashi Y, et al: Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. Neurology 2001: 57: 2205-2210
3. Miyajima H, Kohno S, Takahashi Y, et al: Estimation of the gene frequency of aceruloplasminemia in Japan. Neurology 1999: 53: 617-619