Table 1 Clinical findings of SPG 11 and comparison with our case
From: A case of spastic paraplegia type 11 with a variation in the SPG11 gene
Frequent findings | Our case |
|---|---|
Mild intellectual disability with learning difficulties in childhood and/or progressive cognitive retardation (83%) | + |
Axonal, motor, or sensorimotor peripheral neuropathy (> 80%) | − |
Pseudobulbar involvement with dysarthria and/or dysphagia (85%) | + |
Hyperactive reflexes in the upper limbs (> 80%) | + |
Less frequent findings | |
Cerebellar signs (ataxia or ocular signs including nystagmus and/or saccadic pursuit) | − |
Retinal degeneration (Kjelling syndrome) | ? |
Pes cavus | + |
Scoliosis | − |
Extrapyramidal signs such as parkinsonism | − |