All individuals with variants in gene TUBA4A

55 entries on 1 page. Showing entries 1 - 55.
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00248398 - - - M - - - - - - - ? HP:0007354 (Amyotrophic lateral sclerosis) 1 1 IMGAG
00325365 - - - M - - - - - - - ? Amyotrophic lateral sclerosis (HP:0007354) 1 1 IMGAG
00472942 Fam301298Pat39 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - ALS Sporadic case, consanguineous parents, elevated CPK, facial weakness, gait abnormality, asymmetric proximal upper and lower muscle weakness, active motor neuron disease reported in EDX. 1 1 Johan den Dunnen
00475095 Pat1 PubMed: Smith 2014 patient M - Italy - - - - - ALS see paper; ..., spinal onset, clinical phenotype UMN/LMN; ffrontotemporal dementia 1 1 Johan den Dunnen
00475096 Pat2 PubMed: Smith 2014 4-generation family, 5 affected (2F, 3M)) M - United States - - - - - ALS see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia 1 5 Johan den Dunnen
00475097 Pat3 PubMed: Smith 2014 2-generation family, affected female (and mother) F - Spain - - - - - ALS see paper; ..., spinal onset, clinical phenotype UMN/LMN; ffrontotemporal dementia 1 1 Johan den Dunnen
00475098 Pat4 PubMed: Smith 2014 2-generation family, 2 affected brothers M - Italy - - - - - ALS see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia 1 2 Johan den Dunnen
00475099 Pat5 PubMed: Smith 2014 4-generation family, 2 affected (female and grand-grandmaternal mother) F - United Kingdom (Great Britain) - - - - - ALS see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia 1 2 Johan den Dunnen
00475100 Pat6 PubMed: Smith 2014 2-generation family, 2 affected (son/mother) M - Italy - - - - - ALS see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia 1 2 Johan den Dunnen
00475101 Pat7 PubMed: Smith 2014 3-generation family, 2 affected nieces F - Netherlands - - - - - ALS see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia 1 2 Johan den Dunnen
00475102 Pat8 PubMed: Smith 2014 2-generation family, 2 affected (daughter/father) F - Italy - - - - - ALS see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia 1 1 Johan den Dunnen
00475103 Pat1 PubMed: Wan 2024 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - MYOP see paper; ..., delayed motor development milestones, 14m-walk; no intellectual disability; 3y-myopathic face, high-arched palate, waddling gait, winged scapula, muscle weakness four limbs (lower extremities/proximal muscle more severely affected), no ophthalmoplegia, no ptosis, decreased tendon reflexes; elevated serum creatine kinase (491 U/L) 1 1 Johan den Dunnen
00475104 Pat2 PubMed: Wan 2024 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - MYOP see paper; ..., birth motor retardation; 2y-walk; 3y-mild ptosis, ophthalmoparesis, high-arched palate, muscle weakness both proximal/distal all limbs, decreased tendon reflexes, walk with waddling gai, could not squat; elevated serum creatine kinase (644 U/L) 1 1 Johan den Dunnen
00475105 Fam1Pat1 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents M - France white - - - - ataxia see paper; ..., no developmental delay; ataxia; dysarthria; saccadic pursuit; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy; EMG myopathic signs; MRI brain cerebellar atrophy; increased CPK level; disease progression moderate 1 1 Johan den Dunnen
00475106 Fam2Pat2 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents M - France white - - - - ataxia see paper; ..., learning disability; ataxia; dysarthria; nystagmus; upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy; EMG normal; MRI brain cerebellar atrophy; disease progression moderate 1 1 Johan den Dunnen
00475107 Fam3Pat3 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents F - France white - - - - ataxia see paper; ..., learning disability; ataxia; dysarthria; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; no bladder dysfunction; no amyotrophy; EMG upper limb elongated motor potential; MRI brain cerebellar atrophy; scoliosis; disease progression slow 1 1 Johan den Dunnen
00475108 Fam4Pat4 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents F - France white - - - - ataxia see paper; ..., no developmental delay; ataxia; dysarthria; eye movements; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; no bladder dysfunction; no amyotrophy; EMG normal; MRI brain cerebellar atrophy; disease progression slow 1 1 Johan den Dunnen
00475109 Fam5Pat5 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents F - France white - - - - ataxia see paper; ..., no developmental delay; ataxia; mild dysarthria; nystagmus; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; no ankle clonus; no cognitive decline; bladder dysfunction; no amyotrophy; EMG elongated motor potential; MRI brain normal; disease progression slow 1 1 Johan den Dunnen
00475110 Fam6Pat6 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) white - - - - ataxia see paper; ..., no developmental delay; ataxia; no dysarthria; nystagmus; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy 1 1 Johan den Dunnen
00475111 Fam7Pat7 PubMed: Benkirane 2024 2-generation family, 2 affected brothers/unaffected sister, unaffected parents M - - white - - - - ataxia see paper; ..., no developmental delay; no ataxia; no eye movements; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; bladder dysfunction; no amyotrophy; EMG perturbed; MRI brain normal; cirrhosis; disease progression moderate 1 2 Johan den Dunnen
00475112 Fam7Pat8 PubMed: Benkirane 2024 brother M - - white - - - - ataxia see paper; ..., no developmental delay; no ataxia; no eye movements; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; bladder dysfunction; no amyotrophy; EMG perturbed; MRI brain vascular insult; cirrhosis; disease progression fast 1 1 Johan den Dunnen
00475113 Fam8Pat9 PubMed: Benkirane 2024 3-generation family, 4 affected (brother/mother/2 boys) M - United Kingdom (Great Britain) white - - - - ataxia see paper; ..., no developmental delay; ataxia; no dysarthria; no eye movements; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy; MRI brain cerebellar atrophy; hepatic cyst 1 4 Johan den Dunnen
00475114 Fam9Pat10 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) white - - - - ataxia see paper; ..., no developmental delay; ataxia; dysarthria; no eye movements; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; cerebellar cognitive and affective syndrome; no bladder dysfunction; no amyotrophy; MRI brain cerebellar atrophy; disease progression slow 1 1 Johan den Dunnen
00475115 Fam10Pat11 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) India - - - - ataxia see paper; ..., no developmental delay; ataxia; dysarthria; nystagmus; no upper limb weakness; no lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; no cognitive decline; bladder dysfunction; no amyotrophy; EMG normal; MRI brain cerebellar atrophy; disease progression slow 1 1 Johan den Dunnen
00475116 Fam11Pat12 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected parents M - - white - - - - ataxia see paper; ..., no developmental delay; ataxia; no eye movements; upper limb weakness; lower limb weakness; spasticity; no extensor planter reflex; increased deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; amyotrophy; MRI brain normal; disease progression slow 1 1 Johan den Dunnen
00475117 Trio1 PubMed: Li 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475118 Trio2 PubMed: Li 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475119 Trio3 PubMed: Li 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475120 Pat1 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475121 Pat2 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., oocyte maturation arrest 1 1 Johan den Dunnen
00475122 Pat3 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475123 Pat4 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475124 Pat5 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475125 Pat6 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475126 Pat7 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., oocyte maturation arrest 1 1 Johan den Dunnen
00475127 Pat8 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475128 Pat9 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., embryonic arrest 1 1 Johan den Dunnen
00475129 Trio1 PubMed: Li 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - INFF see paper; ..., oocyte maturation arrest 1 1 Johan den Dunnen
00475130 Pat1 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., oocyte maturation arrest 1 1 Johan den Dunnen
00475131 Pat2 PubMed: Li 2023 patient F - China - - - - - INFF see paper; ..., oocyte maturation arrest 1 1 Johan den Dunnen
00475134 Pat3 PubMed: Hu 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes China - - - - - INFF see paper; ..., recurrent preimplantation embryo developmental arrest 1 1 Johan den Dunnen
00475135 Pat4 PubMed: Hu 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes China - - - - - INFF see paper; ..., recurrent preimplantation embryo developmental arrest 1 1 Johan den Dunnen
00475136 Fam1PatII2 PubMed: Torella 2023 4-generation family, 11 affected (4F, 7M) F - Italy - - - - - ataxia see paper; ..., lost ambulation; gait disturbance; nystagmus; broken smooth pursuit; slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; bladder disturbances; no intellectual disability; normal behavior; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials 1 11 Johan den Dunnen
00475137 Fam1PatIII2 PubMed: Torella 2023 daughter F - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; decreased vibration; bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy; motor evoked potentials; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials 1 1 Johan den Dunnen
00475138 Fam1PatIII4 PubMed: Torella 2023 daughter F - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy; motor evoked potentials; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials 1 1 Johan den Dunnen
00475139 Fam1PatIII6 PubMed: Torella 2023 daughter F - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy; motor evoked potentials; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials 1 1 Johan den Dunnen
00475140 Fam1PatIV1 PubMed: Torella 2023 grandson M - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy 1 1 Johan den Dunnen
00475141 Fam1PatIV3 PubMed: Torella 2023 grandson M - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; no dysarthria; no dysmetria; no dysphagia; brisk knee jerks; no ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior; MRI no cerebellar atrophy 1 1 Johan den Dunnen
00475142 Fam1PatIV4 PubMed: Torella 2023 grandson M - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; no dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior; motor evoked potentials; somatosensory evoked potentials 1 1 Johan den Dunnen
00475143 Fam1PatIV5 PubMed: Torella 2023 grandson M - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; no dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; bladder disturbances; no intellectual disability; normal behavior; motor evoked potentials; somatosensory evoked potentials 1 1 Johan den Dunnen
00475144 Fam1PatIV6 PubMed: Torella 2023 grandson M - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; no ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; decreased vibration; no bladder disturbances; no intellectual disability; normal behavior 1 1 Johan den Dunnen
00475145 Fam1PatIV7 PubMed: Torella 2023 grandson M - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; no dysmetria; no dysphagia; brisk knee jerks; ankle clonus; increased upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior 1 1 Johan den Dunnen
00475146 Fam1PatIV8 PubMed: Torella 2023 grandson M - Italy - - - - - ataxia see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; no dysarthria; no dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior 1 1 Johan den Dunnen
00475147 Fam2PatII1 PubMed: Torella 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - ataxia see paper; ..., 30y-lost ambulation, used walking aids; delayed motor development; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; brisk knee jerks; no ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; decreased vibration; no bladder disturbances; dysexecutive syndrome; normal behavior; MRI cerebellar atrophy; motor evoked potentials 1 1 Johan den Dunnen
00475161 family PubMed: Mol 2021 3-generation family, 8 affected - no Netherlands - - - - - FTD see paper; ... 1 1 Johan den Dunnen
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