RESUMO
Objective: Rare variants in the TREM2 gene have been reported to significantly increase the risk of Alzheimer's disease in Caucasian populations. Hitherto, this association was not studied in North African populations. In this work, we
aimed to study the association between TREM2 exon 2 variants and the risk of late-onset Alzheimer's disease [LOAD] in a Tunisian population
Subjects and Methods: We sequenced exon 2 of TREM2 in a Tunisian cohort of 172 LOAD patients and 158 control subjects. We used the Fisher exact test to compare the distribution of allelic frequencies between the two groups
Results: We identified 4 previously reported nonsynonymous variants [p.Asp39Glu, p.Arg62His, p.Thr96Lys, and p.Val126Gly] and 1 novel synonymous variant [p.Gln109Gln], none of which was significantly associated with the risk of Alzheimer's disease. Moreover, the rare TREM2 variant [p.Arg47His], which was considered to be a risk factor for Alzheimer's disease in European descent populations, was not detected in our cohort
Conclusion: These findings do not support a major role for TREM2 in the pathogenesis of LOAD in the Tunisian population
RESUMO
Acute intermittent porphyria [AlP] is a rare n disorder of heme biosynthesis characterized by enzymatic defect of porphobiligen desaminase with accumulation and s excretion of porphyrins and their precursors. Clinical picture is characterized by attacks with a triad of abdominal pain psychiatric disorder and neurological involvement [central and Peripheral nervous system manifestations, often precipitated porphyrinogenic medications are of poor outcome. We report a new cases A 13-year-old girl who: several attacks of AlP and developed acute severe axonal motor neuropathy, three weeks after porphyrinogenic [Famotidin, Phenobarbital and Nifedipine]. We stress on the importance of early diagnosis of AIP to prevent serious neurological complications often precipitated by medications and the efficiency of heme arginate treatment when administrated early during the attacks