A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

P. Ribai, G. Stevanin, N. Bouslam, B. Pontier, I. Nelson, B. Fontaine, Ch. Dussert, C. Charon, A. Durr, A. Brice
J Neurol. 2006-03-06; 253(6): 714-719
DOI: 10.1007/s00415-006-0094-2

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1. J Neurol. 2006 Jun;253(6):714-9. Epub 2006 Mar 6.

A new phenotype linked to SPG27 and refinement of the critical region on

Ribai P(1), Stevanin G, Bouslam N, Pontier B, Nelson I, Fontaine B, Dussert C,
Charon C, Durr A, Brice A.

Author information:
(1)INSERM U679 (former U289), Hôpital de la Salpêtrière, 47 Boulevard de
l’Hôpital, 75013 Paris, France.

Hereditary spastic paraplegias are genetically and clinically heterogeneous.
Twenty-six loci have been identified to date. SPG27 was recently mapped to
chromosome 10 in a single family with autosomal recessive hereditary spastic
paraplegia (AR-HSP) and a pure phenotype. We describe a Tunisian family with a
complicated form of AR-HSP also linked to SPG27. The parents are first cousins
and 3 out of their 4 children manifest early onset progressive spastic
paraparesis associated with sensorimotor polyneuropathy. In addition, the eldest
girl had facial dysmorphism and short stature (-3SD). Two of the three patients
were mentally retarded, and one of these also had cerebellar signs. Their ages at
onset were 2, 5 and 7 years. A genome-wide scan suggested linkage to SPG27 on the
long arm of chromosome 10 with a multipoint lod score of 2.54. In addition, a
recombination detected in this family by haplotype reconstruction reduced the
SPG27 locus from 25 to 19.6 cM. This is the first clinical description of a
complicated form of spastic paraplegia, characterized by great phenotypic
variability among the sibs, associated with the SPG27 locus.

DOI: 10.1007/s00415-006-0094-2
PMID: 16511635 [Indexed for MEDLINE]

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