Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed with ataxia with vitamin E deficiency have been reported worldwide. The majority of cases originated in the Mediterranean region, and the 744delA w...

LETTER TO ETITOR G6PD (Glucose-6-Phosphate Dehydrogenase) enzyme deficiency is the most common inherited enzyme deficiency so far reported. 1 This enzyme deficiency affects 400 million people worldwide. 2 Most cases of the disease are from tropical regions of Africa, the Middle East, tropical and subtropical regions of Asia and the Mediterranean margin, arise from the process of natural selecti...

BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation. FMF gene (MEFV) mutations have been identified primarily in patients from Mediterranean populations. Although several clinical cases have been reported in Japan, there have been few reports to date on mutation analysis. We studied FMF patients an...

This study examines the frequency of TNFRSF1A gene R92Q mutation in patients with Familial Mediterranean Fever (FMF) and the role of this mutation in FMF. The study included 223 FMF patients with definite diagnosis, according to Tel-Hashomer criteria, carrying two mutations and 205 FMF patients as controls (symptomatically diagnosed) with definite diagnosis but without any of the MEFV gene muta...

Cystic Fibrosis (CF) is the most common lethal rare genetic disease in the Caucasian populations. It is caused by a variety of sequence alterations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. In Caucasian, one over 3,500 new born children suffers from the disease and one over 30 of them is at least carrier of a severe mutation in the CFTR gene. CF and CFTR-related disorders (CFT...

Familial Mediterranean fever (FMF) is an autosomal recessive disorder that is characterized by sporadic paroxysmal attacks of fever and serosal inflammation. Although it occurs primarily in ethnic groups originating in the Mediterranean region, FMF is not restricted to these groups and is still underdiagnosed in nephrology settings in nonMediterranean countries (1). The disease morbidity is lar...

OBJECTIVES Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identified. The results of initial mutation studies have led to the hypothesis that phen...

Methods 15906 people live in Zara, a small town of Sivas. To detect a prevalence of 0.6% with an error of 0.35% and 95% CI, 1673 people were to be screened. One parent from each house (index person) was directly interviewed and also questioned for the family members (FM) of the household with two standard questionnaires. Subjects were revisited by a group of rheumatologists for 3 times. Finally...

Introduction Systemic reactive (AA) amyloidosis represents the most important complication within TNF receptor associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and other autoinflammatory syndromes, progressively leading to endstage renal failure. The homozygous condition of the serum amyloid A (SAA) variant SAA1.1 is significantly associated with the occurrence of AA amy...