Clinical presentation and early evolution of spastic ataxia of Charlevoix‐Saguenay

Abstract

At presentation, ARSACS lacks certain features that are considered typical in adults after years of evolution. Considering that ARSACS is probably under-diagnosed, it should be included in the differential diagnosis of early onset ataxias with or without pyramidal features and is worthwhile to consider in older patients, even when some features are absent.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

“…37,38,40 Regarding the clinical data, our study clearly confirms in a large series that most ARSACS patients manifest with the typical presentation following a very slowly progressive course with unsteadiness as a sign at onset, sometimes responsible for mild motor milestone delay, associated with spasticity during childhood and Table 5). 41 Alternatively, our findings highlight that atypical ARSACS with late onset, atypical features (such as hearing loss, increased auditory evoked potential latencies, and epilepsy), or at least 1 of the core features missing may occur (see Table 1, Supplementary Table 5). 5,9,42 Notably, the disease of 2 patients (AAR-334-009 and AAR-519-001) initiated with early onset lower limb spasticity that remained isolated for 16 and 8 years, respectively, before the occurrence of ataxia.…”

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

“…Recent descriptions of ARSACS outside Québec also reported normal retinal fibres [7,10]. Neuropathy usually presents after the 2 nd decade of life and progresses to spastic paraparesis; [9] in that case, the authors highlight the early onset of neuropathy, with rapidly progressive distal weakness, resulting in loss autonomous gait.…”

“…Classical clinical features include slowly progressive, early-onset (age 12-18 months), cerebellar ataxia,[8] sensory-motor neuropathy, pyramidal tract signs, finger and feet deformities, nystagmus and hypermyelination of retinal nerve fibres [9][10][11][12]. Cognition is usually preserved.…”

Hereditary cerebellar ataxias with polyneuropathy

“…Спастическая атаксия Шарлевуа-Сагенэ -аутосомно-рецессивное заболевание, обусловленное мутацией гена SACS [28]. Заболевание встречается в основном у выходцев из провинции Квебек.…”