title: Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study.
abstract: Episodic ataxia type 2 (EA2) affects mainly the cerebellum via mutations in the CACNA1A gene. The authors used proton MR spectroscopy to examine cerebellar and thalamic metabolism of nine mostly nonataxic EA2 family members (all with proven CACNA1A mutation) and nine healthy control subjects. Cerebellar total creatine was lower in the patient group (p = 0.005) than in control subjects, possibly reflecting an early sign of calcium channel dysfunction in EA2.
authors.affiliation: Departments of Neurology, Helsinki University Central Hospital, Finland. hanna.harno@hus.fi
authors.forename: H
authors.initials: H
authors.lastname: Harno
authors.forename: S
authors.initials: S
authors.lastname: Heikkinen
authors.forename: M A
authors.initials: MA
authors.lastname: Kaunisto
authors.forename: M
authors.initials: M
authors.lastname: Kallela
authors.forename: A-M
authors.initials: AM
authors.lastname: Häkkinen
authors.forename: M
authors.initials: M
authors.lastname: Wessman
authors.forename: M
authors.initials: M
authors.lastname: Färkkilä
authors.forename: N
authors.initials: N
authors.lastname: Lundbom
mesh_terms: D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D015220:Calcium Channels / Q000172:deficiency / Q000235:genetics; D002531:Cerebellum / Q000737:chemistry*; D002648:Child; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis*; D004401:Dysarthria / Q000235:genetics; D005260:Female; D006801:Humans; D007773:Lactates / Q000032:analysis; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000378:metabolism*; D020864:Calcium Channels, N-Type
chemical_list: D001224:Aspartic Acid; D015220:Calcium Channels; D002794:Choline; D003401:Creatine; D007773:Lactates; D022821:RNA Splice Sites; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C000179:N-acetylaspartate