Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum

Family No 1 Family No 2 Patient IV:3 Patient IV:5* Patient III:2 Patient III:5 Patient III:6* Findings Sex/age at examination (y) M/35 M/30 F/34 F/28 M/25 Age at onset (y) Cognitive decline 12 10 9 15 9 Gait disturbance 16 15 17 18 13 Cognitive function Verbal IQ 44 45 45 47 48 Performance IQ 52 49 46 44 51 Full scale IQ 48 49 47 47 50 Frontal releasing sign + + + - + LL hyperreflexia+spasticity + + + + + UL hyperreflexia+spasticity - - + + + Extensor plantar response + + C + + Pseudobulbar dysarthria + + - - + Cerebellar ataxia + + - - + Distal amyotrophy - - + + - Urinary dysfunction - Frequency + incontinence Incontinence Frequency Frequency Brain MRI Age at scan (y) 35 30 34 29 25 Thin corpus callosum All All All All (nearly absent) All White matter change F, Pv F, Pv F, Pv F, Pv F, Pv Cortical atrophy F, T F, T F, T F F, T Cerebellar atrophy + + + - + Tibial nerve, right MNCV (m/s) 45 ND Absent 34 38 CMAP (mV) 8.4 ND Absent 6.0 7.1 Sural nerve, right SNCV (m/s) 47 ND 37 40 39 SAP ([mu]V) 5.0 ND 4.2 13.8 14.3 EMG Giant MUP ND NPW Spontaneous activities Giant MUP, NPW. To date, 30 ARHSP-TCC families worldwide have been identified with genetic linkage to SPG11. [...]far, the only SPG11 gene mutations to be described come from families around the Mediterranean Sea. 5 6 Thus our characterisation of two Taiwanese families with SPG11 gene mutations provides additional corroboration that the SPG11 is the responsible gene for ARHSP-TCC.