Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)

被引：47

作者：

Bouslam, N

Benomar, A

Azzedine, H

Bouhouche, A

Namekawa, M

Klebe, S

Charon, C

Durr, A

Ruberg, M

Brice, A

Yahyaoui, M

Stevanin, G

机构：

[1] Hop La Pitie Salpetriere, INSERM, U679, Federat Inst Neurosci Res IFR70, F-75651 Paris, France

[2] Specialties Hosp, Neurol B & Neurogenet Unit, Rabat, Morocco

[3] Natl Genotyping Ctr, Evry, France

[4] Grp Hosp Pitie Salpetriere, Dept Genet Cytogenet & Embryol, AP HP, F-75634 Paris, France

[5] Grp Hosp Pitie Salpetriere, AP HP, Federat Neurol, F-75634 Paris, France

[6] Univ Paris 06, Pitie Salpetriere Med Sch, Paris, France

来源：

ANNALS OF NEUROLOGY | 2005年 / 57卷 / 04期

关键词：

D O I：

10.1002/ana.20416

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped the spastic paraplegia 28 (SPG28) locus to chromosome 14q2l.3-q22.3 in a Moroccan family with autosomal recessive hereditary spastic paraplegia. Affected patients experienced development of progressive spastic gait during childhood and required help walking in their early 40s. Nine additional hereditary spastic paraplegia families were not linked to this locus, demonstrating further genetic heterogeneity. No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders.

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页码：567 / 571

页数：5

相关论文

共 20 条

[1] A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32 [J].

Blumen, SC ;

Bevan, S ;

Abu-Mouch, S ;

Negus, D ;

Kahana, M ;

Inzelberg, R ;

Mazarib, A ;

Mahamid, A ;

Carasso, RL ;

Slor, H ;

Withers, D ;

Nisipeanu, P ;

Navon, R ;

Reid, E .

ANNALS OF NEUROLOGY, 2003, 54 (06) :796-803

[2] Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease [J].

Casari, G ;

De Fusco, M ;

Ciarmatori, S ;

Zeviani, M ;

Mora, M ;

Fernandez, P ;

De Michele, G ;

Filla, A ;

Cocozza, S ;

Marconi, R ;

Dürr, A ;

Fontaine, B ;

Ballabio, A .

CELL, 1998, 93 (06) :973-983

[3] Is the transportation highway the right road for hereditary spastic paraplegia? [J].

Crosby, AH ;

Proukakis, C .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) :1009-1016

[4] Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene [J].

D'Amico, A ;

Tessa, A ;

Sabino, A ;

Bertini, E ;

Santorelli, FM ;

Servidei, S .

NEUROLOGY, 2004, 62 (11) :2138-2139

[5] Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia [J].

Dürr, A ;

Camuzat, AS ;

Colin, E ;

Tallaksen, C ;

Hannequin, D ;

Coutinho, P ;

Fontaine, B ;

Rossi, A ;

Gil, R ;

Rousselle, C ;

Ruberg, M ;

Stevanin, G ;

Brice, A .

ARCHIVES OF NEUROLOGY, 2004, 61 (12) :1867-1872

[6] The hereditary spastic paraplegias - Nine genes and counting [J].

Fink, JK .

ARCHIVES OF NEUROLOGY, 2003, 60 (08) :1045-1049

[7] LINKAGE OF PURE AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA TO CHROMOSOME-8 MARKERS AND EVIDENCE OF GENETIC-LOCUS HETEROGENEITY [J].

HENTATI, A ;

PERICAKVANCE, MA ;

HUNG, WY ;

BELAL, S ;

LAING, N ;

BOUSTANY, RM ;

HENTATI, F ;

HAMIDA, MB ;

SIDDIQUE, T .

HUMAN MOLECULAR GENETICS, 1994, 3 (08) :1263-1267

[8] SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q [J].

Hughes, CA ;

Byrne, PC ;

Webb, S ;

McMonagle, P ;

Patterson, V ;

Hutchinson, M ;

Parfrey, NA .

NEUROLOGY, 2001, 56 (09) :1230-1233

[9] HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION CAUSED BY MUTATIONS IN THE GTP CYCLOHYDROLASE-I GENE [J].

ICHINOSE, H ;

OHYE, T ;

TAKAHASHI, E ;

SEKI, N ;

HORI, T ;

SEGAWA, M ;

NOMURA, Y ;

ENDO, K ;

TANAKA, H ;

TSUJI, S ;

FUJITA, K ;

NAGATSU, T .

NATURE GENETICS, 1994, 8 (03) :236-242

[10] Long-range control of gene expression: Emerging mechanisms and disruption in disease [J].

Kleinjan, DA ;

van Heyningen, V .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (01) :8-32