Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia

Journal of the Neurological Sciences

Volumn 194, Issue 1, 2002, Pages 75-82

  Berciano, J ^a   Mateo, I ^a   De Pablos, C ^a   Polo, J M ^a   Combarros, O ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

Adult onset spastic ataxia; Friedreich ataxia; GAA expansion

Indexed keywords

ADULT; ALLELE; ANKLE; ARTICLE; BABINSKI REFLEX; CARDIOMYOPATHY; CASE REPORT; CEREBELLUM ATROPHY; CHIARI FROMMEL SYNDROME; CLINICAL FEATURE; DYSARTHRIA; DYSPLASIA; ELECTROPHYSIOLOGY; FAMILY STUDY; FOLLOW UP; FRIEDREICH ATAXIA; GAIT DISORDER; GENETIC DISORDER; GENOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERREFLEXIA; KNEE; LIMB; MALE; MOLECULAR GENETICS; MOTOR NERVE CONDUCTION; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE REPEAT; NYSTAGMUS; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELATIVE; SENSORY NERVE CONDUCTION; SKELETON MALFORMATION; SPASTICITY; SPINAL CORD ATROPHY; SYMPTOM; TRUNK; WHEELCHAIR;

ADULT; AGE OF ONSET; ARNOLD-CHIARI MALFORMATION; CARDIOMYOPATHIES; CEREBELLUM; DISEASE PROGRESSION; FRIEDREICH ATAXIA; GAIT ATAXIA; GENES, DOMINANT; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE SPASTICITY; NEURAL CONDUCTION; NUCLEAR FAMILY; OCCIPITAL BONE; PEDIGREE; PHENOTYPE; SPINAL CORD; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0037082875     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(01)00681-5     Document Type: Article

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