Table 1 Clinical, laboratorial, electrophysiological and radiological findings of 28 cases
From: Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations
Clinical types | HSP | MMA/MTHFR deficiency | LD | HA | CMT |
|---|---|---|---|---|---|
cases | 15 | 5 | 5 | 2 | 1 |
Clinical findings | |||||
 Age (years) | 29.4 (13–62) | 22.2 (13–40) | 37 (24–68) | 30/23 | 14 |
 AAO (years) | 15.5 (3–37) | 19.6 (13–34) | 35 (24–61) | 13/3 | 12 |
 Upper limbs | 3/15 | 2/5 | 4/5 | 2/2 | 0/1 |
 Lower limbs | 15/15 | 5/5 | 5/5 | 2/2 | 1/1 |
 Cerebral signs | 3/15 | 1/5 | 0/5 | 2/2 | 0/1 |
 Dementia | 1/15 | 1/5 | 1/5 | 1/2 | 0/1 |
 Dysarthria | 3/15 | 1/5 | 1/5 | 2/2 | 0/1 |
 Peripheral neuropathy | 3/15 | 3/5 | 0/5 | 1/2 | 0/1 |
Laboratory findings | |||||
 Increased serum Hcy | 2/15, ≤25.5 umol/L | 5/5, ≥53.1 umol/L | 0/5 | 0/2 | 0/1 |
 Declined β-galactocerebr-osidase enzyme | – | – | 1/1 | – | – |
Electro-neurophysiology findings | |||||
 SEP (prolonged central conduction) | 8/9 | 3/3 | 2/4 | 1/1 | 0/1 |
 EMG (extensive spontan-eous potentials) | 2/8 | 0/3 | 0/2 | 1/2 | 1/1 |
 NCS (declined amplitude and/or conduction velocity) | 3/8 Axon impairment | 3/3 Demyelination | 0/2 | 1/2 Demyelination | 0/1 |
Radiological findings | |||||
 Brain MRI | 5/10 Ear of the lynx, TCC, non-specific white matter lesions, cerebellar atrophy | 3/5 Periventricular hyper-intensity, reversible hypersignals | 3/3 Hyperintensities in corpus callosum, periventricular area, and corticospinal tract | 2/2 Cerebellar atrophy, abnormal signals in the pons (ARSACS) | – |
 Spinal MRI | 0/15 | 0/3 | 0/4 | 0/1 | – |