The Cerebellum

Abstract Background and Objectives: Friedreich ataxia (FA) causes progressive impairment of communication due to gradual deterioration of speech, associated with impaired hearing, socio-cognitive and language skills. There is an urgent need to investigate the impact of this multiparametric alteration on patients’ lives. Therefore, the COMunication and ATAXia measure (COMATAX) was developed and va…

Abstract Immune-mediated cerebellar ataxias lack dynamic biomarkers that reflect systemic metabolic changes during treatment. In this longitudinal case of anti-GAD65 cerebellar ataxia, high-resolution respirometry of peripheral blood mononuclear cells (PBMCs) revealed treatment-associated shifts in mitochondrial bioenergetic organization that occurred in temporal association with clinical improve…

Auditory dysfunction is a clinically significant component of Friedreich ataxia (FRDA), but its features are not readily captured in standard audiology. We examined the Listening in Spatialized Noise–Sentences (LiSN-S) test as a measure of auditory function in a large cohort of subjects with this disease. Methods: We examined 101 individuals with FRDA with the LiSN -S, compared the results with 3…

Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurological syndromes including cerebellar ataxia and ocular motor abnormalities. We report a 67-year-old man with progressive dizziness and imbalance, who exhibited spontaneous downbeat and torsional nystagmus, normal vertical saccades, and a unilateral loss of torsional saccades during head tilting. Serum anti-GAD…

Introduction functional impairments in schizophrenia may arise from disruptions in large-scale brain networks. Emerging evidence highlights the cerebellum's role in cognitive and affective regulations, yet its directional influence remains poorly understood. This study examines effective connectivity (EC) within cortico-striato-cerebellar networks in schizophrenia and healthy adults. Methods rest…

Background. Spinocerebellar ataxia (SCA) presents a complex genetic landscape, with over 40 subtypes. These autosomal dominant disorders manifest late onset and severe disability, primarily impacting the cerebellum but also involving other nervous system structures. While a single study has linked hypothalamic atrophy to SCA3, further research is needed to confirm and/or expand this association. …

Parkinsonian symptoms such as tremors, rigidity, bradykinesia, and postural instability typically arise from basal ganglia dysfunction, but growing evidence suggests cerebellar circuits also play a key role. Here, we investigated multiunit activity (MUA) in the inferior olive (IO), dentate nucleus (DN), and Crus II of the cerebellum in a rat model of tract lesion-induced parkinsonism triggered by…

Objectives: In Spinocerebellar Ataxia type 17 (SCA17), penetrance is determined by repeat number of the CAG/CAA trinucleotide in the TATA-binding protein (TBP) gene. The intermediate range (41–48) exhibits only partial penetrance but may manifest a Huntington’s disease-like (HDL-4) syndrome with onset at age 50–60 years. We report a unique case of HDL-4 with childhood onset despite intermediate r…

Ataxia is a coordination disorder that encompasses more than 300 neurological diseases and more than 200 types of hereditary ataxia. Depending on the pathology with which it is associated, the symptomatology present is different: balance and gait disturbance, dysdiadochokinesia, dysarthria, nystagmus, etc. Due to this heterogeneity, the assessment of ataxia is a complex task that is further hinde…