Anti-glutamic acid decarboxylase (GAD) antibody-associated ataxia is a rarely diagnosed but potentially curable disease associated with autoimmune damage to and death of Purkinje cells in the cerebellar cortex. In Russia, the authors have provided for the first time descriptions of three own observations of this disease, which had a number of clinical features, such as slow progression, mild ataxia, stroke-like episodes with stem symptoms, concomitant gluten sensitivity, onset of ataxia after hepatitis C with cerebellar hemiataxia and hemiatrophy. In the all patients, the diagnosis was verified based on the determination of high anti-GAD antibody titers in serum and cerebrospinal fluid. All the patients lacked intrathecal synthesis of oligoclonal antibodies; protein levels and cytosis were normal. Pulse therapy with methylprednisolone at a total dose of 3–5 g led to a slight reduction in ataxia in one case (a female patient with subacute onset of the disease); the treatment was ineffective in two other cases (patients with a primary chronic course). The paper analyzes the literature covering the pathogenesis and clinical presentations of this type of ataxia, and difficulties in its diagnosis and treatment.

Background The role of the cerebellum in cognitive function has been extensively investigated in the last decades. The aim of our work was to characterize cerebellar atrophy in non‐fluent variant primary progressive atrophy (nfvPPA) and to determine whether its atrophy is associated with cognitive impairment. Method Sixteen patients with nfvPPA (mean age 59.6±9.2 years, 7 males) and 10 healthy controls (65.6±11.3 years, 4 males) were included in the study. Disease duration ranged from 12 to 84 months. Notably, the patients had no clinical signs of cerebellar involvement. All participants underwent brain MRI and cognitive assessment. A whole brain VBM analysis between patients and controls was carried out using SPM12. The relationship between clinical data and grey matter atrophy of cerebellum and its distinct areas (anterior lobe, posterior lobe, vermis, left and right hemispheres) was assessed by correlation analysis using the Spearman's rank correlation coefficient. Result VBM revealed a significant decline in grey matter (GM) volume in the anterior (specifically, 4, 5 and 6 lobules) and posterior (specifically, Crus I and II, 7b and 8 lobules) cerebellar lobes bilaterally compared to controls (Figure 1). Correlation analysis revealed a significant correlation between the posterior lobe GM volume and disease severity and total Addenbrooke Cognitive Examination score (r = ‒0.62, p = 0.01 and r = 0.69, p = 0.028, respectively). No correlations with other clinical manifestations and neuropsychological findings (disease duration, total MoCA and FAB scores, semantic and literal verbal fluency, Trail Making Test part B) were detected. Conclusion The findings demonstrate that, even in the absence of clinical signs of cerebellar involvement, prominent cerebellar atrophy is characteristic of nfvPPA. This atrophy is associated with disease severity and contributes to cognitive dysfunction. The study was supported by RFBR 19‐015‐00533.

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Mitochondrial insufficiency does not always have vivid polysystemic manifestations that clinically reflect the dysfunction of these organelles. Diagnosis can be difficult both from a clinical and laboratory point of view. In this case, the authors describe a family with erased or not obvious corresponding clinical manifestations in 3 generations. Complete genomic assessment of mitochondrial DNA give enabled the authorsto identify inherited pathological changes. These findings are very important for understanding the molecular processes of mitochondrial disease development and the further development of specific therapy.