Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families

Benomar, Ali; Yahyaoui, M.; Meggouh, Farid; Bouhouche, Ahmed; Boutchich, M.; Bouslam, Naïma; Zaim, A.; Schmitt, Michèle; Belaïdi, H.; Ouazzani, R.; Chkili, T; Kœnig, M.

doi:10.1016/s0022-510x(02)00057-6

Cited by 53 publications

(38 citation statements)

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“…Late age of onset is therefore not specific to any country or mutation, and in addition, intrafamilial variability was observed in one of the families described here. Cerebellar syndrome was a consistent finding in patients from Tunisia as well as those from Morocco (Benomar et al, 2002). In some rare cases, cerebellar syndrome can be mild to absent .…”

Section: Clinical Featuressupporting

confidence: 52%

“…In some rare cases, cerebellar syndrome can be mild to absent . Head tremor, which was present in Table 3 440% of our patients, was reported at different rates, varying from 37% in patients studied by Cavalier et al (1998), 44% in Mariotti et al (2004) and 73% in Moroccan patients (Benomar et al, 2002;Marzouki et al, 2005). Ankle and knee reflexes were absent or weak in 490% of our patients.…”

Section: Clinical Featuresmentioning

confidence: 59%

“…However, the frameshift 744delA mutation was clearly the most frequent TTPA mutation, detected in 73 families of the 106 reported worldwide to date, including 48 Tunisian families, of which five had already been reported (Ouahchi et al, 1995;Larnaout et al, 1997;Cavalier et al, 1998;Bouhlal et al, 2008). The same mutation was also described in 23 other Mediterranean families: 11 Moroccan (Ouahchi et al, 1995;Cavalier et al, 1998;Benomar et al, 2002;Roubertie et al, 2003;Marzouki et al, 2005), nine Italian (Ouahchi et al, 1995;Cavalier et al, 1998;Martinello et al, 1998;Angelini et al, 2002;Mariotti et al, 2004), one Algerian , one French (Ouahchi et al, 1995), and two Spanish (May Cabrero et al, 2000;Aparicio et al, 2001).…”

Section: Discussion Genetic Characteristics and Epidemiologic Datamentioning

confidence: 86%

“…In the absence of consistent epidemiologic data, the rate of inbreeding appears to favour the emergence of AVED and ARCA in general from Tunisia (Ben Hamida et al, 1993b) compared with other countries, even Morocco, where the inbreeding rate was estimated to be 50% (Benomar et al, 2002;Marzouki et al, 2005). A unique epidemiological study of AVED was performed in Japan, where the T303G mutation was found in only 21 of 801 selected inhabitants of one Japanese island and was not detected in 150 unrelated individuals from Tokyo (Gotoda et al, 1995).…”

Section: Discussion Genetic Characteristics and Epidemiologic Datamentioning

confidence: 99%

“…Similar to Friedreich's ataxia, AVED is generally characterized by early onset progressive gait and limb ataxia, dysarthria, generally absent tendon reflexes, deep sensory disturbances, pyramidal syndrome and skeletal deformities. Among 420 identified mutations, 744delA, found in the Mediterranean region, is considered to be the most commonly encountered mutant Benomar et al, 2002;Mariotti et al, 2004;Marzouki et al, 2005;Bouhlal et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

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Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

Euch-Fayache

Bouhlal

Amouri

et al. 2013

Brain

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Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the a-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 was the most common mutation among the 22 mutants previously described. We examined the clinical and molecular features of a large cohort of 132 Tunisian patients affected with ataxia with vitamin E deficiency. Of these patients, nerve conduction studies were performed on 45, and nerve biopsy was performed on 13. Serum vitamin E was dramatically reduced for 105 of the patients analysed. Molecular analysis revealed that 91.7% of the patients (n = 121) were homozygous for the 744delA mutation. Three other mutations were detected among the remaining patients (8.3%, n = 11) in the homozygous state. Two were previously reported (400C4T and 205-1G4T), and one was novel (553 + 1T4A). Age of onset was 13.2 AE 5.9 years, with extremes of 2 and 37 years. All described patients exhibited persistent progressive cerebellar ataxia with generally absent tendon reflexes. Deep sensory disturbances, pyramidal syndrome and skeletal deformities were frequent. Head tremor was present in 40% of the patients. Absence of neuropathy or mild peripheral neuropathy was noted in more than half of the cohort. This is the largest study of the genetic, clinical and peripheral neuropathic characteristics in patients with ataxia and vitamin E deficiency. The 744delA mutation represents the most common pathological mutation in Tunisia and worldwide, likely because of a Mediterranean founder effect. Our study led us to suggest that any patient displaying an autosomal recessive cerebellar ataxia phenotype with absent tendon reflexes and minor nerve abnormalities should first be screened for the 744delA mutation, even in the absence of a serum vitamin E measurement.

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Section: Clinical Featuressupporting

confidence: 52%