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Cortical cerebral atrophy with frontal predominance seemed to be a late feature, since it was absent in patient TUN , who had the shortest disease duration when examined 6 years.

Jacques Fradin et Pierre Moorkens - Neurosciences

Electroneuromyograms showed electrophysiological signs of predominantly axonal motor peripheral neuropathy in 4 of 8 patients tested Table 2. Muscle and nerve biopsy specimens of these 4 patients showed signs of axonal degeneration associated with chronic neurogenic changes without specific alterations. In 5 families In accordance with these results, direct sequencing of all exons and splice junctions of the SPG11 gene in the 5 chromosome 15q—linked families revealed 2 recurrent mutations: c.

The mutations segregated with the disease in all families but were also present in the homozygous state in individual TUN , who was still unaffected at 11 years of age.

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This individual only had brisk reflexes on examination and is still younger than the age at onset of his affected relatives. Because of his young age, no further investigations could be performed. The haplotypes segregating with the disease were different in the 2 families, suggesting the possibility of different allelic mutations. The mean age at onset Muscle atrophy or cerebellar signs were never observed in SPG15 patients. Indeed, electrophysiological analysis of the 2 SPG15 patients studied showed no evidence of peripheral neuropathy, and radiological analysis showed less cerebellar atrophy and slighter white matter lesions that were restricted to the frontal and occipital horns.

The phenotype of family TUN 35 was clearly different. Although the age at onset was earlier mean [SD], 4.

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In addition, all patients had cataracts and cerebellar ataxia, and pes cavus was frequent 4 of 5. Electroneuromyography findings were normal in a single patient. Cerebellar atrophy was more severe on brain MRI and white matter abnormalities were unremarkable. We report the clinical and genetic study of 8 Tunisian families with HSP-TCC, including 19 patients, the largest group of North African patients of Arab origin investigated to our knowledge so far. This condition was originally described in Japanese patients and has been found in many countries. Additional manifestations include spasticity and hyperreflexia in the upper limbs, distal amyotrophy, pes cavus, urinary disturbance, dysarthria, nystagmus, congenital cataracts, seizures, and extrapyramidal signs.

Cerebral and cerebellar atrophy are slowly progressive, and abnormalities of cerebral white matter with frontal predominance have been observed in long-standing cases. SPG7 has also been associated with a similar phenotype. One family in our series was not linked to any of the loci tested, suggesting that an as-yet-unmapped locus is responsible for their disease. Interestingly, this family, which represents a new genetic entity, also had a unique phenotype that differed from that of SPG11 and SPG15 by an earlier onset and a slower progression of spastic gait, as well as the presence of cataracts and cerebellar ataxia.

Statistical analysis : Stevanin and Mhiri. Obtained funding : Stevanin, Mhiri, and Brice. Administrative, technical, and material support : Boukhris, Feki, Mhiri, and Brice. Study supervision : Stevanin, Belal, Mhiri, and Brice.

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We thank the family members for their participation. All Rights Reserved. Figure 1. View Large Download.

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Table 1. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

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