Spinocerebellar ataxias type 3 and 10: Onset and progression of ataxia during pregnancy and puerperium

Silva, Giulia Vilela; Bonilha, Patricia; Moro, Adriana; Munhoz, Renato P.; Raskin, Salmo; Ashizawa, Tetsuo; Nascimento, Fábio A.; Teive, Hélio A. Ghizoni

doi:10.1016/j.parkreldis.2018.03.025

Cited by 2 publications

(1 citation statement)

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“…The age of ataxia onset had a remarkably wide range apparently unrelated to phenotype or progression. The onset of ataxia related to childbirth in one of our subjects was also described in other PRKCG variants 11,36 and in SCA‐ATXN10 37 but possible mechanisms of aggravation remain speculative. Long‐standing mild or nonprogressive symptoms of walking, speech, or learning dysfunction were reported by 8/25 subjects and also noted in previous reports, 7,10,38,39 suggestive of an early developmental component.…”

Section: Discussionmentioning

confidence: 55%

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder

Schmitz‐Hübsch

Lux

Bauer

et al. 2021

Ann Clin Transl Neurol

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Objectives Genetic variant classification is a challenge in rare adult‐onset disorders as in SCA‐PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined approach for clinicogenetic diagnosis by including protein modeling and provide for confirmed SCA‐PRKCG a comprehensive phenotype description from a German multi‐center cohort, including standardized 3D MR imaging. Methods This cross‐sectional study prospectively obtained neurological, neuropsychological, and brain imaging data in 33 PRKCG variant carriers. Protein modeling was added as a classification criterion in variants of uncertain significance (VUS). Results Our sample included 25 cases confirmed as SCA‐PRKCG (14 variants, thereof seven novel variants) and eight carriers of variants assigned as VUS (four variants) or benign/likely benign (two variants). Phenotype in SCA‐PRKCG included slowly progressive ataxia (onset at 4–50 years), preceded in some by early‐onset nonprogressive symptoms. Ataxia was often combined with action myoclonus, dystonia, or mild cognitive‐affective disturbance. Inspection of brain MRI revealed nonprogressive cerebellar atrophy. As a novel finding, a previously not described T2 hyperintense dentate nucleus was seen in all SCA‐PRKCG cases but in none of the controls. Interpretation In this largest cohort to date, SCA‐PRKCG was characterized as a slowly progressive cerebellar syndrome with some clinical and imaging features suggestive of a developmental disorder. The observed non‐ataxia movement disorders and cognitive‐affective disturbance may well be attributed to cerebellar pathology. Protein modeling emerged as a valuable diagnostic tool for variant classification and the newly described T2 hyperintense dentate sign could serve as a supportive diagnostic marker of SCA‐PRKCG.

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Section: Discussionmentioning

confidence: 55%