Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.
In order to characterize the electrodiagnostic features of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) more fully, we report the clinical and neurophysiological findings in two patients from a Spanish pedigree with a homozygous missense point mutation in the SACS gene. Nerve conduction studies showed signs of both axonal and demyelinating neuropathy. In the upper-limb nerves, motor conduction velocity was intermediately slowed. Sensory nerve action potentials were attenuated or absent. In addition, slowed conduction in the central motor, somatosensory, and auditory brainstem pathways was observed, and masseter and blink reflexes were abnormal. As a whole, this constellation of electrophysiological findings helps in the diagnosis of ARSACS.
Service of Clinical Neurophysiology, Marqués de Valdecilla University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, University of Cantabria, 39008 Santander, Spain. nflgga@humv.es
Antonio
A
García
Chiara
C
Criscuolo
Giuseppe
G
de Michele
José
J
Berciano
D000200:Action Potentials / Q000235:genetics; D000328:Adult; D001259:Ataxia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005073:Evoked Potentials, Somatosensory / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics; D010525:Peripheral Nerves / Q000503:physiopathology*; D011237:Predictive Value of Tests; D013030:Spain
D005819:Genetic Markers; D006360:Heat-Shock Proteins; C404403:SACS protein, human