Autosomal recessive spastic ataxia of Charlevoix Saguenay:a case report and literature review
Objective To explore the clinical,imaging,pathological and genetic features of autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). Methods A patient admitted to the Department of Neurology of the Sixth Medical Center of PLA General Hospital on December 23rd,2019 was selected. The clinical,imaging,sural nerve biopsy pathology and gene mutation characteristics of the patient were retrospectively analyzed,and the previous literature was reviewed. Results The patient was a 21-year-old male who got sick at the age of two,the first attack showed weakness of both lower limbs and fatigue intolerance,then ataxic gait at 11 years old,and scissors gait at 17 years old. The main clinical symptoms were typical triad of cerebellar ataxia,spastic paraplegia and peripheral neuropathy. Cranial MRI showed short T2 signals in transverse bands at the base of pons and tegmentum on T2WI axis,which were arranged in "four rows and two columns". The peduncle of cerebellar pontine increased and the vermis superior cerebellum atrophied. Neuroelectrophysiology results showed that the latency of motor nerve was prolonged,the amplitude was decreased,and the conduction speed was slowed down. No exact waveform was detected in sensory nerve conduction. Bilateral tibialis anterior results showed neurogenic damage. Pathology of sural nerve biopsy results showed that the density of large and small myelinated nerve fibers in the nerve bundle decreased moderately,and axonal degeneration and thin myelinated fibers were scattered. There were two frameshift mutations in ARSACS gene of the patient,namely p.D968Vfs*13 and p.D1903Yfs*31,which were found to be from the patients' father and mother respectively. This mutation was not reported in previous literatures and was considered to be a new mutation. Conclusions The clinical manifestations of the ARSACS patients are typical "triad". Cranial imaging shows transverse banded short T2 signals arranged in four rows and two columns on axialT2WI,biopsy of sural nerve shows chronic active axonal degeneration and myelin loss. New mutations are found in ARSACS gene.
autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS)triadaxonal degenerationneurobiopsyframeshift mutation
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