Early cranial nerve dysfunction is correlated to altered facial morphology in spinocerebellar ataxia type 2
Keywords:
SCA2, Motor performance, hereditary ataxia, spinocerebellar ataxia type 2, olivo-ponto-cerbellar atrophyAbstract
The aim of our cross-sectional study was to quantify trigeminal and facial nerve electrophysiological alterations and to determine its correlation with facial morphology abnormalities and
expanded CAG repeats in Spinocerebellar ataxia type 2 (SCA2). 90 SCA2 patients and 41
preclinical mutation carriers together with 100 sex-, age- and facial type- matched healthy
subjects as controls were assessed by facial motor nerve conduction, blink reflex (BR) and
mandibular reflex (jaw jerk. Facial morphology features were analyzed by the determination of
the facial type using a standardized morphometric facial index and the measurement of three
distinct planes over pictures. Patients exhibited a significant prolongation of latency and duration and decreased amplitude in the facial motor potentials. The mandibular reflex revealed
prolonged latency and decreased amplitude. Moreover, the bilateral R2 component of the blink
reflex was prolonged. Preclinical carriers showed prolonged duration for facial nerve potentials
and mandibular reflex, as well as increased latency of bilateral R2 BR component. Facial
morphology measures revealed periorbital, perioral and masseter alterations in patient and
preclinical groups, and some of them were correlated to the electrophysiological features and
expanded CAG repeats.
These electrophysiological and morphological features widen the prodromal phenotype of
SCA2, and offer new clues about the role of ATXN2 mutations for muscle atrophy, neuronal
energy balance and lipid metabolism.
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