Main clinical features
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early-onset spastic paraplegia with mild handicap, mental deterioration, congenital cataract, cerebellar ataxia, cerebral, cerebellar, and corpus callosum atrophy PMID:20593214
bilateral testicular hypotrophy, extremely severe spermatozoid head abnormalities with necrospermia and severe reduction in velocity PMID:20593214
childhood- or juvenile-onset cerebellar ataxia with a pyramidal syndrome that consisted of spasticity involving initially the lower limbs and later also the upper limbs, brisk reflexes, extensor plantars, and Hoffman sign PMID:23332917
ophthalmoparesis with a jerky pursuit and slow saccades, pes cavus and scoliosis, axonal sensory or sensory-motor neuropathy, and mild intellectual disability PMID:23332917
global cerebral, cerebellar, corpus callosum, and spinal cord atrophy PMID:23332917 |