Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.
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PMID:The clinical aspects of adult hexosaminidase deficiencies. 184 98

This study aimed to define the characteristics of the long loop reflex (LLR) in patients with spinocerebellar degeneration (SCD) and motor neuron disease (MND), and observe changes in LLR caused by thyrotropin releasing hormone (TRH), a facilitator of cerebellar and motor neurons. The markers used for LLR were: V1-2 peak Latency (the latency between the V1 and V2 peaks); V2 peak-P24 Latency (the latency between the V2 peak and P24 of a somatosensory evoked potential); V2 Amplitude, and V2 Square (the area of the V2 wave). V1-2 peak Latency was significantly longer, and V2 Amplitude was significantly lower than the control in SCD. We attributed these alterations of the LLR to cerebellar ataxia, since all SCD cases had cerebellar ataxia, and extrapyramidal symptoms were only present in one SCD case; the MND cases with motor neuron disturbance showed no significant difference from the control. TRH injection resulted in an increase in V2 Square and a decrease in V2 peak-P24 Latency in SCD and other neurological disease patients. We regarded these changes as activation of the LLR by TRH. With TRH therapy, activation of the LLR coincided with improvement of cerebellar ataxia in SCD. Symptomatic improvement, however, was not observed and the LLR changes were not stable in MND. These results suggest that TRH-induced activation of LLR is caused by the activation of cerebellar function, and indirectly concerns with upper motor neurons because V2 Square increased in MND without pyramidal tract signs.
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PMID:The long loop reflex in spinocerebellar degeneration and motor neuron disease--its changes with TRH therapy. 211 56

A Japanese male with juvenile Sandhoff disease is described. The patient was a product of full-term normal pregnancy from non-consanguineous parents. Since age 10, he developed progressive dysarthria and proximal muscle atrophy and weakness. Mental deterioration and cerebellar ataxia are also noted since the age of 20. On neurological examination at age 35, he showed decreased mentality (IQ 62), marked atrophy and weakness of proximal muscles, cerebellar ataxia and increased deep tendon reflexes. Brain CT scans revealed moderate to marked atrophy of cerebellum. Giant MUP, fasciculation potentials and positive sharp waves were observed on EMG examination. Biopsied sural nerve showed markedly decreased myelinated fibers. Hexosaminidase A and B activities in leukocytes and cultured fibroblasts were about 10% of normal values, while other lysosomal enzyme activities were within normal range. Rectal biopsy demonstrated lamellar inclusion bodies in submucosal ganglion cells. This is the first Japanese patient with juvenile Sandhoff disease presenting symptoms similar to motor neuron disease and cerebellar degeneration.
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PMID:[A case of juvenile Sandhoff disease]. 235 Sep 30

Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis.
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PMID:Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease). 853 Sep 38

Here we report a sporadic case of severe involvement of the motor neuron system accompanied with cerebellar ataxia. A 55-year-old Japanese woman was admitted to our hospital because of unstable gait and clumsiness of hands. Since she had prominent ataxia, she was initially diagnosed as late onset cortical cerebellar atrophy (LCCA). However, mild muscular weakness and atrophy were pointed out. Weakness in extremities progressed slowly and she became unable to walk in two years. On the second admission, in addition to cerebellar ataxia, she had moderate to severe muscular weakness and atrophy with fasciculation in extremities. Although she had no sensory impairment, micturitional disturbance nor orthostatic hypotension, she had impaired skin sweating response. MRI imaging revealed moderate cerebellar and brain stem atrophy. Neurophysiological examination revealed upper and lower motor neuron damage. Beta-D-N acetylglucosaminidase activity was normal and SCA1, DRPLA and Machado-Joseph disease were excluded by DNA studies. Combination of motor neuron disease and cerebellar degeneration has been very rare. Only two cases similar to our case were reported before. Our patient had anti GM1-ganglioside antibody in her serum, suggesting that motor neuron disease and cerebellar degeneration may occur with the same pathophysiological mechanism.
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PMID:[A case of severe involvement of the motor neuron system accompanied with cerebellar ataxia]. 916 44

Tay-Sachs disease is caused by Hexosaminidase A deficiency. Symptoms of the enzyme deficiency rarely become clinically manifest in adult age; then the course of the disease differs in a wide range. We report on a patient with cerebellar ataxia and lower motor neuron disease. Neurophysiological investigations, neuro-imaging (CT, MRI), and muscle biopsy reveal pathological but nonspecific findings. Determination of hexosaminidase A and B activities leads to the diagnosis. In patients with spinocerebellar ataxia hexosaminidase deficiency has to be considered as a differential diagnosis.
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PMID:[Hexosaminidase deficiency as differential spinocerebellar diseases]. 1009 52

During the period from May 1997 to October 1998, eight patients with coeliac disease or dermatitis herpetiformis and neurological disorders were admitted to the Department of Neurology, University Hospital of Bergen. The most frequent conditions were polyneuropathy (seven patients) and spinocerebellar ataxia (three patients). Other conditions were lower motor neuron disease, myelopathy, epilepsy and encephalopathy. The patients used various degrees of gluten-free diet at the time of admission. It remains unclear whether there is a shared common pathogenetic mechanism or the neurological disorder is a complication to the coeliac disease. Both vitamin depletion and immunological mechanisms may cause neurological disorder. Neurological manifestations may occur before the gastrointestinal symptoms. With reference to our patients and available literature we discuss prevalence, clinical picture, pathogenesis, treatment and prognosis. Neurologists, gastroenterologists and general practitioners should be aware that coeliac disease can cause neurological diseases, especially polyneuropathy, cerebellar ataxia and encephalopathy.
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PMID:[Neurological diseases associated with celiac disease]. 1086 1

We report a sporadic case of spinocerebellar ataxia accompanied by later but severe involvement of the motor neuron system. A 72-year-old man began to show ataxia and dysarthria at age 66 years. Neurological examinations revealed saccadic eye movement, slurred speech, truncal ataxia, pyramidal sign, and urinary disturbance. Neither history of alcoholism nor hereditary factors were found. He developed muscular atrophy of the lower and upper extremities and limb ataxia within three years. Superficial and deep sensations were diminished in both feet four years after onset. Thus, he presented with cerebellar ataxia, bulbar sign, upper and lower motor neuron symptoms, sensory disturbance, and autonomic sign after six years at age 72. The level of serum, creatine phosphokinase (CPK) was increased, and muscle biopsy showed marked neurogenic change. Magnetic resonance imaging (MRI) revealed mild cerebellar and pontine atrophy. Although the combination of spinocerebellar ataxia and motor neuron disease is very rare, the present case suggests the inter-relation of the spinocerebellar and motor neuron systems, and presents peripheral neuropathy as a subtype of multisystem atrophy.
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PMID:A case of spinocerebellar ataxia accompanied by severe involvement of the motor neuron system. 1104 17

A 35-year old Japanese male with adult Sandhoff disease was described, who was presented as a motor neuron disease phenotype with slow progression. At the age of 15, he first noticed weakness in his thigh. At the age of 28, his upper and lower motor neuron disturbances were disclosed. He was diagnosed as atypical amyotrophic lateral sclerosis. At the age of 34, a slight sensory disturbance appeared in the lower extremities. When he was admitted to our hospital, he displayed marked atrophy and weakness in his quadriceps femoris muscles, but no signs of mental deterioration and cerebellar ataxia. Because of the atypical course of motor neuron disease, hexosaminidase activity in peripheral leukocytes was determined. The assay of total hexosaminidase, hexosaminidase A and hexosaminidase B activities demonstrated low levels of these activities (7-15% of controls), leading the diagnosis of Sandoff disease. He was a member of non-consanguineous family, and the abnormal patterns of hexasaminidase activities were different between his father and mother. These data appear to show that he is a compound heterozygote in the locus of the hexosaminidase B gene. This is the first Japanese case of adult Sanhoff disease presented as a motor neuron disease phenotype.
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PMID:[Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression]. 1143 65

Machado-Joseph disease (MJD) is a spinocerebellar degeneration with a wide phenotypic presentation. A 64-y-old male with a history of gait disability and fasciculations was referred to our unit with the diagnosis of motor neuron disease (MND), which was supported by the presence of upper motor neuron signs and diffuse loss of motor units on electromyography. Trunk and cranial-innervated muscles were clearly affected. Respiratory function was mildly affected. Cerebellar ataxia developed over time and the diagnosis of MJD was confirmed by genetic studies. MJD should be considered in the differential diagnosis of MND.
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PMID:Machado-Joseph disease presenting as motor neuron disease. 1796 92


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