Few population studies are available on epidemiological indexes of hereditary ataxias. An investigation on the prevalence rate of these movement disorders is in progress for the Veneto region, the main area of northeast Italy with a population of 4,490,586 inhabitants. The first results of this epidemiological survey concern the province of Padua, which numbers 845,203 residents (January 1, 2002). The prevalence rate of inherited ataxias has been estimated at 93.3 cases per million inhabitants. The most common types appeared to be the autosomal dominant forms, namely spinocerebellar ataxia type 1 and 2, with a prevalence of 24 per 1,000,000. In the same population, with a prevalence rate of 6 per 1,000,000, Friedreich’s ataxia was defined as the prominent recessive autosomal form. There were very rare cases of ataxia telangiectasia, ataxia with vitamin E deficiency and cerebellar ataxia with congenital muscular dystrophy, a recently identified autosomal recessive disease.
Background
COVID-19 pandemic has boosted telemedicine in medical clinical practice. Experiences in the management of chronic neurological disorders are limited and scattered. The aim of the study was to evaluate feasibility and efficacy of virtual visit for chronic neurological disorders during COVID-19 pandemic.
Methods
All patients scheduled for a visit during the lockdown period were contacted. The patients fell into four categories: (1) long-term follow-up, the patient was re-scheduled; (2) visit was necessary, teleconsultation was accepted; (3) problem was solved by phone call; and (4) visit was necessary and teleconsultation was not feasible, then visit was maintained. Google Meet was used. During the virtual visit, neurological examination was performed, and demographic and clinical characteristics were recorded.
Results
At the end of May 2020, 184 virtual visits for 178 patients were performed for the following diseases: myasthenia gravis (47 patients), multiple sclerosis (79), epilepsy (12), headache (6), and parkinsonism (34). The patients were 70 males and 108 females with a mean age of 53.5 years (range 13–90). During virtual visit, we were able to obtain a satisfactory neurological examination.
Conclusions
We demonstrated feasibility and effectiveness of virtual visit in the management of a large group of patients with common chronic neurological disorders.
Diagnostic evaluation of two sisters affected by ataxia, with similar age of onset, revealed a characteristic trinucleotide expansion in the Friedreich's ataxia (FRDA) locus and two different phenotypic presentations. At onset the elder sister had retained deep tendon reflexes (FARR), while the younger sister presented classic FRDA. The GAA expansion in the patients' alleles proved to be similar in both siblings, ruling out that age at onset and clinical heterogeneity could be due to different FRDA mutations. On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA.
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