Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
Arch Neurol. 2006-05-01; 63(5): 756
DOI: 10.1001/archneur.63.5.756
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1. Arch Neurol. 2006 May;63(5):756-60.
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11
interval and evidence for further genetic heterogeneity.
Lossos A(1), Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, Gomori JM,
Klebe S, Lerer I, Elleuch N, Silverstein S, Durr A, Abramsky O, Ben-Nariah Z,
Brice A.
Author information:
(1)Department of Neurology, Agnes Ginges Center for Human Neurogenetics,
Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
BACKGROUND: Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC)
is an autosomal recessive form of complicated HSP mainly characterized by slowly
progressive spastic paraparesis and mental deterioration beginning in the second
decade of life. The locus for HSP-TCC, designated SPG11, was mapped to chromosome
15q13-15 in some of the affected families from Japan, Europe, and North America,
spanning an interval of 17.5 megabases (Mb).
OBJECTIVE: To perform a clinical and genetic study of HSP-TCC.
DESIGN AND SETTING: Case series; multi-institutional study.
PATIENTS: Seven patients with HSP-TCC who belong to 3 consanguineous families of
Arab origin residing in Israel.
RESULTS: The 7 patients manifested a relatively similar combination of
adolescence-onset cognitive decline and spastic paraparesis with TCC on brain
magnetic resonance imaging. After excluding the SPG7 locus, we tested the 3
families for linkage to the SPG11, SPG21/MAST, and ACCPN loci associated with
autosomal recessive disorders with TCC. Two families showed evidence for linkage
to SPG11 (Z(max) = 5.55) and reduced the candidate region to 13 Mb.
CONCLUSIONS: Our findings in HSP-TCC further confirm its worldwide distribution
and genetic heterogeneity, and they significantly reduce the candidate SPG11
interval.
DOI: 10.1001/archneur.63.5.756
PMID: 16682547 [Indexed for MEDLINE]