Background: Buspirone, a 5HT-agonist and D2-dopamine antagonist/agonist, has modest beneficial effects in younger individuals with cerebellar ataxia. However, it is unclear whether it is beneficial and tolerable in older ataxic individuals.
Objective: To determine if an older individual with cerebellar ataxia would benefit from and tolerate buspirone.
Methods: We performed a single-subject, double-blinded, placebo-controlled randomized-phase study. The 80 year-old subject was to undergo six 4-week testing periods, divided randomly into three treatment and three placebo arms with a 2-week washout period between each arm. Treatment consisted of buspirone hydrochloride. Outcomes were clinical gait and balance testing, posturography testing, and subjective measurement of balance confidence.
Results: There were no statistically significant objective improvements with buspirone. The subject experienced a subjective improvement in balance confidence and tolerated treatment.
Conclusions: Single-subject studies can help when it is unclear whether drug trial results with young subjects are generalizable to an older subject. This single-subject study determined that buspirone was tolerable but not clearly beneficial for an ataxic older individual.
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J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
J Neurol
January 2025
Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Robinson Way, Cambridge, CB2 0PY, UK.
Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure, immunodeficiency and cancer predisposition, leading to premature death. There are no curative treatments available for A-T but clinical trials have begun. A major limiting factor in effectively evaluating therapies for A-T is the lack of suitable outcome measures and biomarkers.
View Article and Find Full Text PDFNeurol Ther
January 2025
Biohaven Pharmaceuticals, Inc., 215 Church Street, New Haven, CT, 06510, USA.
Introduction: The Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL) is a validated and highly utilized measure for evaluating patients with Friedreich Ataxia. While construct validity of FARS-ADL has been shown for spinocerebellar ataxia (SCA), content validity has not been established.
Methods: Individuals with SCA1 or SCA3 (n = 7) and healthcare professionals (HCPs) with SCA expertise (n = 8) participated in qualitative interviews evaluating the relevance, clarity, and clinical meaningfulness of FARS-ADL for assessment of individuals with SCA.
Neurogenetics
January 2025
Department of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology, Peking Union Medical College Hospital, Beijing, China.
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