Objective: To compare the frequency of seizures between patients with SCA10 and other SCA in a sample of the Peruvian population. Materials and methods: Observational study with a retrospective component through medical record review and a prospective component with interviews after prior informed consent. Patients with a genetic diagnosis of SCA attended between January 2014 and December 2023 in a national referral center in Peru were recruited. Results: We identified 125 cases from 87 families diagnosed with six types of SCA (SCA1, SCA2, MJD/SCA3, SCA6, SCA7 and SCA10), with an overall seizure frequency of 11.2%. Seizures predominated in the SCA10 subgroup (16%), contrasting with the other SCA subgroup (4%), which had only two cases of seizures in SCA2. Conclusions: Seizures are significantly more frequent in SCA10 compared to other SCA subgroup in the studied population. Tonic-clonic ...

A thematic review on MELAS in Latin America between 1990 and 2021 was conducted through a systematic literature search on LILACs, Scielo, PubMed/Medline and Scopus databases. Nineteen case reports/series out of 966 publications were selected and included 51 patients, 42 of them with genetic diagnosis reported in eight Latin American countries. The m.3243A> G variant was the most frequently reported, the mean age at onset being 12 ± 9.7 years, with a mild female predominance. The most frequent neurological features were stroke-like episodes and seizures. Neuroimaging tests highlighted ischemic stroke-like lesions as well as calcified lesions in the basal ganglia.

Hereditary ataxias represent a diverse group of neurogenetic disorders characterized by impairments in motor coordination due to dysfunction of the cerebellum or its associated pathways. These diseases include autosomal dominant, recessive, X-linked, and mitochondrial forms. The diagnosis and management of hereditary ataxias are complex and face additional challenges in resource-limited regions such as Peru and other Latin American countries. This review proposes a structured diagnostic approach for hereditary ataxias based on five key pillars: (1) confirmation of the type of ataxia (cerebellar or non-cerebellar), (2) age of onset, (3) mode of presentation (predominantly pure or plus), (4) family history, and (5) exclusion of reversible or secondary causes. The most useful ancillary test/procedures for differential diagnosis depending on the information from the 5 axes include serum anal...

Myotonic dystrophy type 1 is an autosomal dominant hereditary neuromuscular disorder with systemic manifestations. It is characterized by progressive muscle weakness, myotonia, and cataracts, alongside variable involvement of the cardiovascular, endocrine, and central nervous systems. This report highlights three cases of myotonic dystrophy type 1 with significant central nervous system involvement, presenting with structural changes in brain MRI, cognitive decline, epilepsy, and behavioral changes. These cases underscore the importance of a multidisciplinary evaluation, including neuropsychiatric assessments and neuroimaging studies, as an integral part of the comprehensive management of these patients.