Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24

Neurology

Volumn 72, Issue 22, 2009, Pages 1893-1898

  Schule R ^a,b   Bonin, M ^c   Durr A ^e,f   Forlani, S ^e,g,i   Sperfeld, A D ^h   Klimpe, S ⁱ   Mueller, J C ^j   Seibel, A ^b   Van De Warrenburg, B P ^k   Bauer, P ^d   Schols L ^a,b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c Institute of Human Genetics   (Germany)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^e INSERM   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g SORBONNE UNIVERSITÉ   (France)

^h UNIVERSITY OF ULM   (Germany)

ⁱ JOHANNES GUTENBERG UNIVERSITY   (Germany)

^j MAX PLANCK INSTITUTE FOR ORNITHOLOGY   (Germany)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 12Q; CHROMOSOME 12Q23; CHROMOSOME 12Q24; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LINKAGE ANALYSIS; MALE; MARKER GENE; MICROSATELLITE MARKER; MOTOR NEUROPATHY; NERVE CONDUCTION; NEUROPHYSIOLOGY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORY NEUROPATHY;

EID: 67650066946     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181a6086c     Document Type: Article

References (13)

1. Strümpell A. Beiträge zur Pathologle des Ruckenmarks: I: Spastische Splnalparalysen. Arch Psychlatr Nervenkr 1880;10:676-717.
2. Harding AE. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981;44:871-883.
3. Durr A, Brice A, Serdaru M, et al. The phenotype of "pure" autosomal dominant spastic paraplegia. Neurology 1994;44:1274-1277.
4. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-1155.
5. Durr A. Genetic testing for the spastic paraplegias: drowning by numbers. Neurology 2008;71:236-238.
6. Orlacchio A, Patrono C, Gaudiello F, et al. Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4. Neurology 2008;70:1959- 1966.
7. Zhao GH, Hu ZM, Shen L, et al. A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hered- itaryspastic paraplegia. Chin Med J 2008;121:430-434.
8. Lindner TH, Hoffmann K. easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics 2005;21:405-407.
9. Schule R, Holland-Letz T, Klimpe S, et al. The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 2006;67:430-434.
10. Klebe S, Azzedine H, Durr A, et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 2006;129:1456-1462.
11. Hanein S, Martin E, Boukhris A, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 2008;82:992- 1002.
12. Wilkinson PA, Simpson MA, Bastaki L, et al. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet 2005;42:80-82.
13. Rosa AL, Molina I, Kowaljow V, Conde CB. Brisk deep- tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree. Mov Disord 2006;21:66-68.