Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

Neurology

Volumn 55, Issue 5, 2000, Pages 702-705

  Santorelli, F M ^a   Patrono, C ^a   Fortini, D ^b   Tessa, A ^a   Comanducci, G ^b   Bertini, E ^a   Pierallini, A ^b   Amabile, G A ^b   Casali, C ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; ONSET AGE; PRIORITY JOURNAL;

EID: 0033821055     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.5.702     Document Type: Article

References (10)

1. Strumpell's familial spastic paraplegia: Genetics and neuropathology
2. Hereditary 'pure' spastic paraplegia: A clinical and genetic study of 22 families
3. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
4. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
5. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
6. Nonradioactive characterization of low-level heteroplasmic mitochondrial DNA mutations by SSCP-PCR enrichment
7. The AAA team. Related ATPases with diverse functions
8. Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families
9. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
10. Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia