Isolated spastic paraparesis leading to diagnosis of Friedreich's ataxia

Journal of Neurology Neurosurgery and Psychiatry

Volumn 69, Issue 5, 2000, Pages 693-

  Castelnovo, G ^a   Biolsi, B ^a   Barbaud, A ^a   Labauge, P ^a   Schmitt, M ^a  

^a DEPARTMENT OF NEUROLOGY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN;

ADULT; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; FRIEDREICH ATAXIA; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA;

EID: 0033792147     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.69.5.693     Document Type: Letter

References (9)

1. Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features
2. Friedreich's ataxia in Acadian families from eastern Canada: Clinical diversity with conserved haplotypes
3. Friedreich's ataxia. Revision of the phenotype according to molecular genetics
4. Mapping of mutation causing Friedreich's ataxia to human chromosome 9
5. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
6. Clinical and genetic abnormalities in patients with Friedreich's ataxia
7. Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
8. Frataxin is reduced in Friedreich's ataxia patients and is associated with mitochondrial membranes
9. Friedreich's ataxia presenting as adult-onset spastic paraparesis