A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
Hum Genet. 2007-02-02; 121(3-4): 413-420
DOI: 10.1007/s00439-007-0328-0
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1. Hum Genet. 2007 May;121(3-4):413-20. Epub 2007 Feb 2.
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
Bouslam N(1), Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di
Giandomenico S, Boland-Augé A, Santorelli FM, Durr A, Brice A, Yahyaoui M,
Stevanin G.
Author information:
(1)Neurology B and Neurogenetics Unit, Specialities Hospital, Rabat, Morocco.
Autosomal recessive spastic ataxias are a heterogeneous group of
neurodegenerative diseases usually characterized by the early onset of cerebellar
and pyramidal signs. With the collaboration of the clinical European and
Mediterranean SPATAX network, we identified 15 families with 34 affected members
presenting with ataxia and pyramidal signs or spasticity that were not linked to
the ARSACS locus on chromosome 13. In an informative consanguineous Moroccan
family, we mapped a novel locus, SAX2, to chromosome 17p13. The minimal linked
interval lies in a region of 6.1 cM flanked by markers D17S1845/1583 and D17S1854
(Z(max) = 3.21). Three of the remaining 14 families were also possibly linked to
SAX2. The overall clinical picture in nine patients was cerebellar ataxia with
pyramidal signs and/or spasticity. Onset occurred before the age of 15 years in
two families and in adulthood in the other two. Interestingly, in the largest
SAX2 family, the presenting clinical sign was dysarthria, which is not common in
other forms of inherited ataxias or spastic ataxias, whereas gait difficulties
appeared later. Most cases also showed fasciculations suggesting that both lower
and upper motor neurons are involved in the disease process. No mutations were
found in the coding exons of KIF1C, ARRB2 and ANKFY1, three genes in the
candidate region.
DOI: 10.1007/s00439-007-0328-0
PMID: 17273843 [Indexed for MEDLINE]