Table 1.

Clinical and molecular findings in patients with SPG79 in the patients described in this study and in the patients described by Bliguvar et al. [4], Rydning et al. [5], and Bhowmik et al. [3]

Paper	Bilguvar et al. [4]			Rydning et al. [5]			Bhowmik et al. [3]		Present family
Patient	NG 1024–1	NG 1024–2	NG 1024–3	Patient III-4	Patient III-5	Patient III-6	P1	P2	P1	P2
Age at examination	28 y	33 y	34 y	65 y	62 y	62 y	10 y	7 y	41 y (died at 43)	33 y (died at 40)
Age at onset	5 y	7 y	5 y	10 y	10 y	10 y	2 y	2 y	8 y	8 y
First symptom	Visual loss	Visual loss	Gait imbalance	Visual loss	Visual loss	Visual loss	Delayed development and seizures	Delayed development and abnormal gait	Visual loss	Visual loss
Optic atrophy	+	+	+	+	+	+	+	+	+	+
Nystagmus	+	+	+	+	+	+	+	+	−	+
Ophthalmoparesis	NA	NA	NA	−	+	−	−	−	−	+
Pyramidal signs	+	+	+	+	+	+	+	+	+	+
Spasticity	+	+	+	−	+	+	+	+	+	+
Peripheral motor neuropathy	+	+	+	+	+	+	+	+	+	+
Pes cavus	NA	NA	NA	+	+	+	−	−	+	+
Sensory loss	+	+	+	+	+	+	−	−	−	−
Cerebellar signs	+	+	+	+	+	+	+	+	+	+
Lost ambulation	+	+	+	+	+	+	+	+	+	+
Seizures	−	−	+	−	−	−	+	−	−	−
Cognitive impairment	NA	+	+	−	−	−	+	+	−	−
Facial dysmorphism	NA	NA	NA	NA	NA	NA	+	+	+	+
Chest deformity	NA	NA	NA	−	+	+	+	+	+ (Scoliosis)	+ (Scoliosis)
Mutations reported	c.20A > C (p.Glu7Ala) homozygous			c.533G > A (p.Arg178Gln); c.647C > A (p.Ala216Asp) compound heterozygous			c.459 + 2 T > C (homozygous)		c.627_629del (homozygous)

y years, NA not available, + present,− absent