Table 1 Clinical characteristics of patients and genetic findings.
Family | Individual | Gender | Age of onset | Age at examination | Phenotypes | Gene Variant |
|---|---|---|---|---|---|---|
RDFA05 | IV:1 (Proband) | M | 15–18 years | 55years | Cerebellar ataxia showing slow saccadic oculomotor disturbances, dysarthria, Ataxia, impaired limb coordination, muscular atrophy, pes cavus feet | MFSD8 c.935T > C, p.Ile312Thr |
IV:3 | M | 15–18 years | 53 years | Cerebellar ataxia having similar disease symptoms as the proband but evaluations could not be performed by the neurologist | MFSD8 c.935T > C, p.Ile312Thr | |
IV:4 | M | 15–18 years | 50 years | Cerebellar ataxia having similar disease symptoms as the proband but evaluations could not be performed by the neurologist | MFSD8 c.935T > C, p.Ile312Thr | |
IV:5 | M | 15–18 years | 45 years | Cerebellar ataxia showing slow saccadic oculomotor disturbances, dysarthria, Ataxia, impaired limb coordination, muscular atrophy, pes cavus feet | MFSD8 c.935T > C, p.Ile312Thr | |
RDFA09 | IV:3 (Proband) | F | 1 year | 12 years | Spastic ataxia type 5 showing symptoms of facial spasms, speech difficulty, dystonia in neck and arms, pes planus feet | AFG3L2 2167G > A, p.Val723Met |
IV:4 | M | infancy | 10 years | Spastic ataxia type 5 having symptoms of generalized dystonia, Inability to walk, generalized muscular atrophy | Inability to obtain blood sample due to dystonic postures and enough saliva was not available for DNA extraction | |
RDFA11 | V:2 (Proband) | M | 15-17years | 50 years | Ataxia with oculomotor apraxia type 2 showing symptoms of ataxia, inability to walk unaided, head titubation, oculomotor apraxia, dysarthria, neuropathy and hand contractures, limb muscle amyotrophy, pes cavus feet | SETX: c.4633_4636delAGTG, p.Ser1545AlafsTer25 |
V:3 | M | 15-17years | 45 years | Ataxia with oculomotor apraxia type 2 showing symptoms of gait ataxia and inability to walk unaided, oculomotor apraxia, dysarthria, muscle atrophy, neuropathy and hand contractures | SETX: c.4633_4636delAGTG, p.Ser1545AlafsTer25 | |
VI:3 | F | 15-17years | 35 years | Ataxia with oculomotor apraxia type 2 showing mild symptoms of ataxic gait, dysarthria, hand contractures | SETX: c.4633_4636delAGTG, p.Ser1545AlafsTer25 | |
IV:4 | M | 15-17years | 30 years | Ataxia with oculomotor apraxia type 2 showing symptoms of ataxia with frequent falls, head titubation, oculomotor apraxia, dysarthria, muscular atrophy | SETX: c.4633_4636delAGTG, p.Ser1545AlafsTer25 | |
IV:5 | M | 15 years | 16 years | Minor symptoms of gait ataxia, mild dysarthria, cerebellar atrophy reported on brain imaging (data not shown) | SETX: c.4633_4636delAGTG, p.Ser1545AlafsTer25 | |
RDFA07 | IV:10 (Proband) | M | Infancy | 15 years | Ataxic cerebral palsy showing symptoms of delayed developmental milestones, Wide based ataxic gait, intellectual disability and inability to speak, esotropia of eyes, dysmorphic facial features, microcephaly | No finding (regions of homozygosity on chromosomes 2, 3, 6 and 18) |
V:4 | M | 1–2 years of life | 7 years | Ataxic cerebral palsy showing symptoms of wide based ataxic gait, esotropia of eyes, pes planus feet | No finding (regions of homozygosity on chromosomes 2, 3, 6 and 18) | |
RDFA08 | V:1 (Proband) | M | 14 months | 7 years | Ataxic cerebral palsy having wide based ataxic gait leading to loss of ability to walk, dysmorphic facial features with bulbous nose, speech difficulty, slight microcephaly, esotropia, muscular atrophy, mild contractures in hands and feet | No finding (regions of homozygosity on chromosomes 3, 1, 18, 19) |
V:3 | M | 1 year | 13 years | Ataxic cerebral palsy showing symptoms of ataxia with narrow based gait and lateral body sway, slurred speech, minor hand contractures | No finding (regions of homozygosity on chromosomes 3, 1, 18, 19) | |
V:7 | M | 2 years | 6 years | Juvenile onset amyotrophic lateral sclerosis with dysmorphic facial features having bulbous nose, speech difficulty, hand and feet contractures, inability to walk, spasticity of lower limbs | ALS2 c.3520 A > T, p.Lys1174Ter | |
RDFA03 | V:1 (Proband) | M | 9 years | 17 years | CMT having symptoms of head titubation, dysmorphic facial features, dysphonia, muscle atrophy and areflexia of distal limb muscles, hand contractures, valgus wrists and ankles, inability to walk, pes cavus feet | GDAP1 c.840delC, p.Tyr280Ter and MMACHC c.176T > C, p.Leu59Pro |
V:3 | M | 2 years | 6 years | CMT showing symptoms wide based ataxic gait, muscle atrophy of limbs, hand contractures, No wrist and ankle movements | GDAP1 c.840delC, p.Tyr280Ter | |
V:6 | F | 15 years | 24 years | CMT with inability to walk, No wrist and ankle movements, pes planus feet, foot drop | GDAP1 c.840delC, p.Tyr280Ter | |
V:8 | M | 14 years | 20 years | CMT showing symptoms of mild gait ataxia, atrophy and areflexia of distal muscles, hand contractures, valgus wrist and ankle, pes cavus feet | GDAP1 c.840delC, p.Tyr280Ter | |
RDFA04 | IV:1 (Proband) | M | 8–10 years | 35 years | CMT having symptoms of amyotrophy and areflexia of distal limb muscles, contractures of hands and feet, valgus wrists and ankles | GDAP1 c.347T > G, p.Met116Arg |
IV:3 | M | 8–10 years | 30 years | CMT with symptoms of amyotrophy and areflexia of distal limb muscles, Severe hand and feet contractures | GDAP1 c.347T > G, p.Met116Arg |
