Abstract

Autosomal recessive cerebellar ataxia type 1 is a rare neurodegenerative disorder that typically manifests in adulthood. It is characterized by progressive gait ataxia, dysarthria, dysmetria, mild oculomotor impairments, and diffuse cerebellar atrophy observed in brain imaging. This condition primarily affects cerebellar functions, with minimal involvement of other neurological systems. Herein, we reported a case of a 28-year-old female patient who presented with clinical features resembling amyotrophic lateral sclerosis, deviating from the typical autosomal recessive cerebellar ataxia phenotype. The patient had a 10-year history of progressive lower extremity weakness, speech difficulties, and muscle wasting. Neurological examination revealed spastic and hypophonic speech, muscle wasting, fasciculations, spasticity, and limb ataxia. Brain magnetic resonance imaging showed pancerebellar atrophy, and electromyography indicated widespread denervation findings. Genetic testing identified a pathogenic SYNE1 mutation, associated with amyotrophic lateral sclerosis-like symptoms and cerebellar ataxia. This case highlights the importance of recognizing atypical presentations in neurodegenerative diseases, particularly hereditary ataxias.

Citation: Saltoğlu T, Kurtkaya Koçak Ö, Sücüllü Karadağ Y. Cerebellar plus phenotype in autosomal recessive cerebellar ataxia type 1: An atypical amyotrophic lateral sclerosis-like presentation. Parkinson Hast Harek Boz Derg 2025;28(2-3):20-23. doi: 10.5606/phhb.dergisi.2025.50.