La ataxia espinocerebelosa tipo 27B (SCA27B) es una ataxia hereditaria causada por la expansión del microsatélite GAA en el gen FGF14 y se caracteriza por episodios de disfunción cerebelosa, como alteraciones en la coordinación y el equilibrio. Desde su identificación en 2023, ha sido reportada en diversas poblaciones de Norteamérica, Europa, Asia y recientemente en Brasil; sin embargo, su prevalencia y características genéticas en la población peruana son desconocidas. El estudio tuvo como objetivo estimar la frecuencia de SCA27B en una cohorte peruana de pacientes con ataxia hereditaria sin diagnóstico definitivo atendidos en el Centro de Investigación Básica en Neurogenética (CIBN) durante el periodo 1996–2022. Se analizaron muestras de ADN de 166 individuos provenientes del Banco de ADN-Neurogenética, realizándose la genotipificación del microsatélite GAA del gen F...

Los pacientes pediátricos pueden presentar diversas alteraciones que requieren intervenciones quirúrgicas, como es la presencia de dientes supernumerarios. La revisión de las Historias Clínicas del Servicio de Postgrado de Odontopediatría, desde el año 1996 hasta el 2001 mostró que la mayor frecuencia de intervenciones quirúrgicas de piezas supernumerarias correspondió al axilar superior y a pacientes con dentición mixta. La mayoría de pacientes intervenidos fueron controlados satisfactoriamente. 

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 ...

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...