The relationship between Marcel Proust and Joseph Babinski: the encounter of two geniuses

Marcel Proust was one of the greatest French writers of all times. Since early in his life, Proust was interested in arts and particularly literature. He also demonstrated a great knowledge of medicine, particularly neurology. His father was a doctor, and contributed to neurology through studies on aphasia, stroke, hysteria, and neurasthenia. During his childhood, Proust had the first asthma attack, initially considered a manifestation of neurasthenia. Regarding his illness, Proust was in touch with several renowned neurologists, such as Brissaud, Babinski and Sollier, and other disciples of Charcot. Proust spent the last three years of his life mostly confined to his bedroom since his health had badly deteriorated. in one moment, Babinski was called, examined Proust and after leaving his bedroom, announced to his brother that Proust was practically dead. Few hours later, Proust developed vomica and died.Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG)Universidade Federal de São Paulo, Dept Neurol, Setor Neurol Geral & Ataxias, São Paulo, BrazilUniv Fed Parana, Hosp Clin, Serv Neurol, Setor Disturbios Movimento, BR-80060000 Curitiba, Parana, BrazilUniv Fed Minas Gerais, Dept Interno Med, Serv Neurol, Setor Disturbios Movimento, Belo Horizonte, MG, BrazilUniversidade Federal de São Paulo, Dept Neurol, Setor Neurol Geral & Ataxias, São Paulo, BrazilWeb of Scienc

A NOVEL MISSENSE MUTATION PATTERN OF THE GCH1 GENE IN DOPA-RESPONSIVE DYSTONIA

Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

OBJECTIVES: Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GAA-FGF14 ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia. METHODS: We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the FGF14 repeat locus. Patients were recruited across 4 different regions of Brazil. RESULTS: Of the 93 index patients, 8 (9%) carried an FGF14 (GAA)≥250 expansion. The expansion was also identified in 1 affected relative. Seven patients were of European descent, 1 was of African descent, and 1was of admixed American ancestry. One patient carrying a (GAA)376 expansion developed ataxia at age 28 years, confirming that GAA-FGF14 ataxia can occur before the age of 30 years. One patient displayed episodic symptoms, while none had downbeat nystagmus. Cerebellar atrophy was observed on brain MRI in 7 of 8 patients (87%). DISCUSSION: Our results suggest that GAA-FGF14 ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology