Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

Journal of Neurology

Volumn 260, Issue 9, 2013, Pages 2414-2416

  Bettencourt, Conceição ^a   Morris, Huw R ^a   Singleton, Andrew B ^b   Hardy, John ^a   Houlden, Henry ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; PROTEIN; SPG8 PROTEIN; UNCLASSIFIED DRUG;

ADULT; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DYSTONIA; EXOME; FAMILY; FEMALE; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LETTER; NEUROIMAGING; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SPASTICITY; TREATMENT RESPONSE; WALKING;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; DOPAMINE AGENTS; EXOME; FEMALE; HUMANS; LEVODOPA; MALE; MOLECULAR SEQUENCE DATA; MUSCLE SPASTICITY; MUTATION, MISSENSE; PARAPLEGIA; PEDIGREE; PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84884357292     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7044-6     Document Type: Letter

References (8)

1. Bettencourt C, Lopez-Sendon JL, Garcia-Caldentey J, Rizzu P, Bakker IMC, Shomroni O, Quintáns B, Davila JR, Bevova MR, Sobrido M-J, Heutink P, Garcia de Yebenes J (2013) Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Clin Genet (in press)
2. Bettencourt C, Quintans B, Ros R, Ampuero I, Yanez Z, Pascual SI, de Yebenes JG, Sobrido MJ (2012) Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias. Hum Mutat 33:1315-1323
3. de Bot ST, Vermeer S, Buijsman W, Heister A, Voorendt M, Verrips A, Scheffer H, Kremer HP, van de Warrenburg BP, Kamsteeg EJ (2013) Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. J Neurol 260:1765-1769
4. Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G (2012) Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 318:1-18
5. Freeman C, Seaman MN, Reid E (2013) The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. Biochim Biophys Acta 1832:160-173
6. Reid E, Dearlove AM, Whiteford ML, Rhodes M, Rubinsztein DC (1999) Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. Neurology 53:1844-1849
7. Rocco P, Vainzof M, Froehner SC, Peters MF, Marie SK, Passos-Bueno MR, Zatz M (2000) Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet 92:122-127
8. Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA (2007) Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 80:152-161