الفهرس 
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Abstract
Hereditary neurological diseases are one of the commonest causes of disability worldwide. Identifying their causative genes is essential for the development of targeted treatments and prevention approach. In this study we focused on three disorders which frequently seen in the clinic. These disorders included hereditary peripheral neuropathy, hereditary ataxia and hereditary spastic paraplegia. This study aimed to identify the genetic and phenotypic characters of Egyptian patients with these disorders. Mutation analysis was done from genomic DNA in a large cohort of Egyptian patients from 112 families with HSP (N=24), hereditary ataxia (N=43) and HPN (N=45) families. We examined all diseased members n each family as well as parents, brothers, and sisters. The rate of consanguinity in our families was 75.89%.This study also included 200 healthy Egyptians recruited from general population as controls for comparison. The most frequent genetic cause in the HSP cohort was SPG11 which was found in 17 patients from 9 families (9/24, 37.5% families). CYP7B1 gene mutations represented the second common cause for HSP in our cohort and it was detected in two families (2/24, 8.3%). The most frequent genetic cause in the ataxia cohort is FXN which was found in 10 families (10/43, 23.26% families). The second most common gene is SCA2 (ATXN2) which was found in three out of 43 families (3/43, 6.98% families). The most frequent genetic cause in the CMT cohort is SH3TC2 and MPV17, each of which was found in three families (3/45, 6.67% families). This was followed by mutation in GDAP1and SORD (novel gene) and each of which was found in two families (2/45, 4.44% families). from the results of this study, I conclude that Egyptian patients had some differences in the frequency of genetic causes of these disorders especially in CMT cohort. I recommend including the different genes which had been detected in this study in a gene panel that could be used as an initial genetic screening of the Egyptian patients with similar phenotypes to our cases of HSP, ataxia and inherited neuropathy. This approach will help in the early diagnosis and proper genetic counselling.