Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Study of a family and review of the literature;Ataxie spastique autosomique récessive de Charlevoix-Saguenay : étude d'une famille et revue de la littérature

Revue Neurologique

Volumn 164, Issue 4, 2008, Pages 363-368

  Anheim, M ^a,b   Chaigne, D ^c   Fleury, M ^b   Santorelli, F M ^d   De Seze J ^a   Durr, A ^e   Brice, A ^e   Koenig, M ^b   Tranchant, C ^a  

^a HÔPITAL CIVIL   (France)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^c HÔPITAL DE HAUTEPIERRE   (France)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Autosomal recessive cerebellar ataxia; Charlevoix Saguenay; Spastic paraparesis

Indexed keywords

ALANINE; LEUCINE; PROLINE; VALINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; CASE REPORT; CEREBELLAR ATAXIA; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAM; GENE MUTATION; HUMAN; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY;

ADULT; ATAXIA; BRAIN; CEREBELLUM; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; FEMALE; GENOTYPE; HEAT-SHOCK PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROLOGIC EXAMINATION; PEDIGREE;

EID: 45949086047     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2008.02.001     Document Type: Article

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