Friedreich's Ataxia in the South of Italy : A Clinical and Biochemical Survey of 23 Patients

Abstract

SUMMARY:We report a clinical and biochemical survey of 23 patients with Friedreich's ataxia from southern Italy. They were studied clinically and by means of a clinical rating scale devised by us (Inherited Ataxias Clinical Rating Scale). Laboratory tests, based on the Quebec Cooperative Study, were also performed on our patients. No major clinical or biochemical differences were found between Italian and Canadian patients. Investigation of CSF monoamine metabolites showed that HVA decreased after probenecid and metoclopramide loading

Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations

“…The number of disease-causing expansions found in the Caucasian population we studied (10͞851) predicts a carrier frequency of 1͞85 (confidence interval of 1͞53-1͞222) and a disease incidence of 1͞29,000 (with, however, a wide confidence interval of 1͞11,000 to 1͞200,000), which is within the upper range of previous estimations based on epidemiological studies (1)(2)(3)(4)(5). In fact, FRDA expansions have been found associated with a broader spectrum of clinical presentation than the classic form of the disease (35), including patients with adult onset, incomplete presentation, or retained reflexes (7,8).…”

“…† Alleles are numbered by decreasing number of (TCTA)n ϩ (TCCA)n repeats, with allele Ϫ1 having 19 tetranucleotide repeats, according to the initial description of this microsatellite (17). 2 calculation was performed with the allele 2 compared to the pooled other alleles.…”

“…Friedreich's ataxia (FRDA), an autosomal recessive disease, is the most frequent inherited ataxia, with a prevalence estimated at Ϸ1 to 50,000 and a calculated carrier frequency of Ϸ1 into 120 in the Caucasian population (1)(2)(3)(4)(5). We identified recently by positional cloning the defective gene, named frataxin, that encodes a protein of unknown function (6).…”

Noninvasive Assessment of Systolic and Diastolic Function in 50 Patients with Friedreich’s Ataxia

“…The degree of neurologic disability at the time of echo study was classified according to the four-stage Inherited Ataxia Progres sion Scale (IAPS) [18]. Stage I: asymptom atic patient detected among the siblings of a known case; stage II: symptoms present but mild; stage III: patient needed constant care; stage IV: patient confined to bed or to a wheelchair.…”

Auditory Brainstem Response Patterns in Familial and Sporadic Olivopontocerebellar Atrophy

“…Clinical involvement was quantified accord ing to the Inherited Ataxias Clinical Rating Scale. The maximum score was 34 [2], Among the 15 familial cases, dominant inheritance was established in 9 patients on the basis of vertical transmission of the disease; recessive inheritance was argued in 6 patients on the basis of lack of vertical transmission and presence of more than one affected in the family. The diagnosis of sporadic OPCA was made in 7 patients on the basis of negative results in the family.…”