Tay sachs disease in adult
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The presence of ataxia suggests an SCA or an autosomal recessive ataxia as an additional consideration. The initial presentation of motor neuron disease followed years later by cerebellar ataxia attests to the phenotypic progression that may be seen in individuals throughout their lifetimes. There was no bradykinesia, although rapid alternating movements were clumsy. While total hexosaminidase quantification was normal Sensation was normal for pinprick, temperature, vibration, and position.
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Neuropsychiatric Aspects Of Adult
Of note, the latter is known to be associated with LOTS in the homozygous state, or in compound heterozygosity with a null allele. Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Spinal muscular atrophy. We thank the patient for her careful assembling of her records.
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Neuropsychiatric aspects of the adult variant of tay
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Brain MRI was reportedly unremarkable. By her late 40s, balance problems led to falls and injuries, and by age 51 she used a walker intermittently. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency.
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