Hereditary spastic paraplegia with thin corpus callosum: Reduction of the SPG11 interval and evidence for further genetic heterogeneity

Archives of Neurology

Volumn 63, Issue 5, 2006, Pages 756-760

  Lossos, Alexander ^a   Stevanin, Giovanni ^b   Meiner, Vardiella ^a   Argov, Zohar ^a   Bouslam, Naima ^b   Newman, J P ^a   Gomori, John M ^a   Klebe, Stephan ^b   Lerer, Israela ^a   Elleuch, Nizar ^b   Silverstein, Shira ^a   Durr, Alexandra ^b   Abramsky, Oded ^a   Ben Nariah, Ziva ^a   Brice, Alexis ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARAB; ARTICLE; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; FEMALE; GENE LOCUS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

EID: 33646397288     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.5.756     Document Type: Article

References (11)

1. Ueda M, Katayama Y, Kamiya T, et al. Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan. Neurology. 1998;51:1751-1754.
2. Coutinho P, Barros J, Zemmouri R, et al. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. Arch Neurol. 1999;56:943-949.
3. Simpson MA, Cross H, Proukakis C, et al. Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet. 2003;73:1147-1156.
4. Orlacchio A, Kawarai T, Totaro A, et al. Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol. 2004;61:849-855.
5. Howard HC, Mount DB, Rochefort D, et al. Mutations in the K-Cl cotransporter KCC3 cause a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002;32:384-392.
6. Martinez Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology. 1999;53:50-56.
7. Shibasaki Y, Tanaka H, Iwabuchi K, et al. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15. Ann Neurol. 2000;48:108-112.
8. Casali C, Valente EM, Bertini E, et al. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology. 2004;62:262-268.
9. Brown L, Sherbenou RJ, Johnsen SK. Test of Nonverbal Intelligence. 2nd ed. Austin, Tex: Pro-Ed; 1990.
10. Winner B, Uyanik G, Gross C, et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol. 2004;61:117-121.
11. Kang SY, Lee MH, Lee SK, Sohn YH. Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum. Parkinsonism Relat Disord. 2004;10:425-427.