SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

Neurology

Volumn 66, Issue 1, 2006, Pages 112-114

  Namekawa, M ^a   Ribai, P ^a   Nelson, I ^a   Forlani, S ^a   Fellmann, F ^c   Goizet, C ^d   Depienne, C ^a   Stevanin, G ^a   Ruberg, M ^a   Durr A ^a   Brice, A ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c UNIVERSITY HOSPITAL OF BESANÇON   (France)

^d BORDEAUX UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DISABILITY; DISEASE DURATION; FAMILIAL DISEASE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPG3A GENE; SPG4 GENE; BRAIN; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MALE; MIDDLE AGED; MUTATION; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PERIPHERAL NERVE;

GUANOSINE TRIPHOSPHATASE; SPG3A PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; BRAIN; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MUTATION; PERIPHERAL NERVES; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; WALLERIAN DEGENERATION;

EID: 33645806761     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000191390.20564.8e     Document Type: Article

References (7)

1. Zhao X, Alvarado D, Rainier S, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001;29:326-331.
2. Dürr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004;61:1867-1872.
3. Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mut 2004;23:98-101.
4. Depienne C, Tallaksen C, Lephay JY, et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases. J Med Genet 2005;Jul 31 [Epub ahead of print].
5. Praefcke GJK, McMahon HT. The dynamin superfamily: universal membrane tubulation and fission molecules? Nat Rev Mol Cell Biol 2004;5:133-147.
6. Scarano V, Mancini P, Criscuolo C, et al. The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 2005;252:901-903.
7. Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-983.