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

Journal of Neurology
Pascale RibaiAlexis Brice

Abstract

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.

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Citations

Apr 9, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·E PanzaM Seri
Jun 24, 2014·Experimental Neurology·Temistocle Lo GiudiceAntonio Orlacchio
Dec 31, 2010·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Mike CleeterThomas T Warner
Feb 7, 2008·American Journal of Human Genetics·Maria K TsaousidouAndrew H Crosby
May 5, 2012·Journal of the Neurological Sciences·Josef FinstererGiovanni Stevanin
May 16, 2007·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Stephan KlebeGiovanni Stevanin
Dec 24, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·A Micheil InnesDavid A Dyment

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