NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

European Journal of Neurology

Volumn 18, Issue 9, 2011, Pages 1197-1199

  Svenstrup, K ^a,b   Moller R S ^c   Christensen, J ^d   Budtz Jorgensen E ^a   Gilling, M ^a   Nielsen, J E ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

^c DANISH EPILEPSY CENTRE   (Denmark)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Hereditary spastic paraplegia; HSP; Idiopathic generalized epilepsy; IGE; NIPA1; SPG6

Indexed keywords

GENOMIC DNA; OXCARBAZEPINE; VALPROIC ACID;

ARTICLE; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL FEATURE; DISEASE SEVERITY; DYSARTHRIA; DYSTONIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENE; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC LINKAGE; GENETIC RISK; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; NEUROLOGIC EXAMINATION; NIPA1 GENE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING; SPASTICITY;

ADULT; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 80051578945     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2011.03359.x     Document Type: Article

References (12)

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 321: 1151-1155.
2. Stevanin G, Ruberg M, Brice A. Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep 2008; 8: 198-210.
3. Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. NIPA1 gene mutations cause autosomal dominant hereditary Spastic Paraplegia (SPG6). Am J Hum Genet 2003; 73: 967-971.
4. Bien-Willner R, Sambuughin N, Holley H, Bodensteiner J, Sivakumar K. Childhood-onset spastic paraplegia with NIPAL gene mutation. J Child Neurol 2006; 21: 974-977.
5. Chen S, Song C, Guo H, et al. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum Mutat 2005; 25: 135-141.
6. Kaneko S, Kawarai T, Yip E, et al. Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. Mov Disord 2006; 21: 1531-1533.
7. Klebe S, Lacour A, Durr A, et al. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics 2007; 8: 155-157.
8. Liu SG, Zhao JJ, Zhuang MY, et al. Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia. J Neurol Sci 2008; 266: 109-114.
9. Munhoz RP, Kawarai T, Teive HA, et al. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). Mov Disord 2006; 21: 279-281.
10. Reed JA, Wilkinson PA, Patel H, et al. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 2005; 6: 79-84.
11. Beetz C, Schule R, Klebe S, et al. Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J Neurol Sci 2008; 268: 131-135.
12. de Kovel CG, Trucks H, Helbig I, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010; 133: 23-32.