Autosomal dominant cerebellar ataxias

Revue Neurologique

Volumn 167, Issue 5, 2011, Pages 385-400

  Marelli, C ^a,b   Cazeneuve, C ^a   Brice, A ^a,b   Stevanin, G ^a,b,c   Durr A ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c PSL RESEARCH UNIVERSITY   (France)

Author keywords

Ataxia; Dominant genetic conditions; Spinocerebellar ataxia

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; FIBROBLAST GROWTH FACTOR 14; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; POLYGLUTAMINE; PROTEIN KINASE C GAMMA; SPECTRIN;

AFG3L2 GENE; ATN1 GENE; ATXN2 GENE; ATXN8 GENE; ATXN8OS GENE; AUTOSOMAL DOMINANT CEREBELLAR ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BEAN TK2 GENE; BRAIN ATROPHY; CACNA1A GENE; CAG REPEAT; CELL LOSS; CEREBELLUM ATROPHY; CHOREOATHETOSIS; DEMENTIA; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DYSTONIA; E46L GENE; EYE MOVEMENT DISORDER; FASCICULATION; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY ATAXIA; HUMAN; HUNTINGTON CHOREA; INTRACELLULAR SIGNALING; KCNC3 GENE; KENNEDY DISEASE; MENTAL DISEASE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MYOCLONUS; NERVE CELL DEGENERATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; ONSET AGE; OPHTHALMOPLEGIA; PARKINSONISM; PATHOGENESIS; PERIPHERAL NEUROPATHY; PHOTORECEPTOR; PPP2R2B GENE; PURKINJE CELL; PYRAMIDAL SIGN; REFLEX DISORDER; RETINA DYSTROPHY; REVIEW; SACCADIC EYE MOVEMENT; SEIZURE; SENSORY DYSFUNCTION; SENSORY NEUROPATHY; SPASTICITY; SPINOCEREBELLAR DEGENERATION; SPTBN2 GENE; SYNAPTIC TRANSMISSION; TBP GENE; TTBK2 GENE; URINARY DYSFUNCTION;

HUMANS; SPINOCEREBELLAR DEGENERATIONS;

EID: 79957686760     PISSN: 00353787     EISSN: 00353787     Source Type: Journal    
DOI: 10.1016/j.neurol.2011.01.015     Document Type: Review

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