All individuals with variants in gene RNF170

10 entries on 1 page. Showing entries 1 - 10.
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00294637 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00431235 FamAPat4;R31640 PubMed: Wagner 2019, PubMed: Yepez 2022 3-generation family, affected brother/sister, unaffected heterozygous carrier parents F - Germany - - - - - SPG 20y-loss ambulation; normal motor development; no cognitive deficits; mild optic atrophy; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; no ataxia; mild cervical dystonia; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; 30y-lower limbs no cortical potential 1 2 Johan den Dunnen
00431236 FamAPat5 PubMed: Wagner 2019 sister M - Germany - - - - - SPG 22y-loss ambulation; normal motor development; no cognitive deficits; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; vibration/surface/temperature deficits; no ataxia; no extrapyramidal involvement; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; motor evoked potentials upper limbs normal/lower limbs reduced cortical amplitudes; 33y-upper limbs prolonged central latency, lower limbs no cortical potential; MRI cranium/cervical spine normal 1 1 Johan den Dunnen
00431237 FamBPat3 PubMed: Wagner 2019 4-generation family, affected brothers/sisters (F, 3M), unaffected heterozygous carrier parents M yes Iran Baluch - - - - SPG 11.5y-loss ambulation; delayed motor development; no cognitive deficits; severe optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; generalized, severe muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI significant cerebellar atrophy 1 4 Johan den Dunnen
00431238 FamBPat4 PubMed: Wagner 2019 brother M yes Iran Baluch - - - - SPG still walking; delayed motor development; no cognitive deficits; moderate optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI cerebellar atrophy 1 1 Johan den Dunnen
00431239 FamBPat5 PubMed: Wagner 2019 sister F yes Iran Baluch - - - - SPG still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; visually evoked potentials normal; MRI normal 1 1 Johan den Dunnen
00431240 FamBPat6 PubMed: Wagner 2019 brother M yes Iran Baluch - - - - SPG still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence 1 1 Johan den Dunnen
00431241 FamCPat4;R31640 PubMed: Wagner 2019, PubMed: Yepez 2022 5-generation family, affected nephew/niece, unaffected heterozygous carrier parents F yes Tunisia - - - - - SPG still walking; delayed motor development; no cognitive deficits; no oculomotor abnormalities; no dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; no extensor plantar response; no sensory deficits; no ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; normal sensory evoked potentials; MRI cranium/cervical spine normal 1 2 Johan den Dunnen
00431242 FamDPat3 PubMed: Wagner 2019 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Iran Fars - - - - SPG still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal 1 2 Johan den Dunnen
00431243 FamDPat4 PubMed: Wagner 2019 brother M yes Iran Fars - - - - SPG still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal 1 1 Johan den Dunnen
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