Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

Movement Disorders

Volumn 25, Issue 9, 2010, Pages 1269-1273

  Brussino, Alessandro ^a   Graziano, Claudio ^b   Giobbe, Dario ^a   Ferrone, Marina ^a   Dragone, Elisa ^a   Arduino, Carlo ^a   Lodi, Raffaele ^c   Tonon, Caterina ^c   Gabellini, Anna ^b   Rinaldi, Rita ^b   Miccoli, Sara ^b   Grosso, Enrico ^a   Bellati, Maria Cristina ^a   Orsi, Laura ^d   Migone, Nicola ^a   Brusco, Alfredo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d AOU San Giovanni Battista   (Italy)

Author keywords

CAG repeat; PPP2R2B gene; SCA12; Spinocerebellar ataxia

Indexed keywords

GENOMIC DNA; INOSITOL; N ACETYLASPARTIC ACID; NERVE PROTEIN; PHOSPHOPROTEIN PHOSPHATASE 2; PPP2R2B PROTEIN, HUMAN; PROTON;

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DIFFUSION TENSOR IMAGING; FEMALE; GENE; GENETIC COUNSELING; GENETIC SCREENING; HAPLOTYPE; HUMAN; ITALY; MALE; ONSET AGE; PEDIGREE ANALYSIS; PENETRANCE; PHENOTYPE; PPP 2R 2B GENE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SPINOCEREBELLAR DEGENERATION; SPINOCEREBELLAR DEGENERATION TYPE 12; TRINUCLEOTIDE REPEAT; ADOLESCENT; ATAXIA; DIAGNOSTIC USE; FAMILY HEALTH; GENETICS; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; POSITRON EMISSION TOMOGRAPHY; PROCEDURES; RETROSPECTIVE STUDY; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ATAXIA; FAMILY HEALTH; FEMALE; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POSITRON-EMISSION TOMOGRAPHY; PROTEIN PHOSPHATASE 2; PROTONS; RETROSPECTIVE STUDIES; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 77955075484     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22835     Document Type: Article

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