Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A four-year-old wire-haired dachshund developed progressive neurological signs of ataxia, intention tremor and finally dysuria. Two years later, histopathology showed that neurons throughout the brain and spinal cord were distended with lipopigment which was also present in macrophages. Ultrastructurally, the pigment in the neurons occurred predominantly as electron-dense membranous whorls and stacks. There were a few vacuolated macrophages in the meninges. Hepatocytes were highly vacuolated and electron microscopy suggested that they were empty membrane-bound vesicles. The disease was diagnosed as mucopolysaccharidosis IIIA because of its similarity to other biochemically confirmed cases in the same breed and in a New Zealand huntaway dog. Additional lesions included calcium oxalate uroliths, severe secondary calcification of tissues including the brain and storage deposits in some neurons, and lesions which may have been associated with high levels of the substrate, heparan sulphate.
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PMID:Histological diagnosis of mucopolysaccharidosis IIIA in a wire-haired dachshund. 1137 Aug 81

Two wirehaired dachshund puppies were presented with generalized tremor and gait abnormalities characterized by mild ataxia, tetraparesis and slightly abnormal proprioception. Neurological examination led to the suspicion of a diffuse generalized white matter lesion. Computerized tomography and pathological examination revealed a remarkable unilateral dilatation of the lateral ventricles in each dog. Histopathological examination showed a severe reduction of stainable myelin, widespread mild perineuronal oedema with vacuolations and multifocal reactive astrocytosis affecting the subcortical and deep periventricular white, and to a lesser degree, grey matter of the cerebral hemispheres, most prominently at the level of the optic chiasm. Axons showed a moderately reduced packing density; some axons were irregularly shaped and slightly thickened. There was no evidence of myelin breakdown products and neurones appeared to be well preserved. Brain stem, cerebellum and spinal cord were normal, as was the peripheral nervous system. This leukoencephalopathy in two dachshund puppies most closely resembles human periventricular leukomalacia caused by pre- or perinatal hypoxia-ischaemia.
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PMID:Periventricular and subcortical leukoencephalopathy in two dachshund puppies. 1553 12

Oxaliplatin is a reference drug in the treatment of digestive-tract tumors, especially colorectal cancer. Its toxicity profile is dominated by a peripheral sensitive neuropathy, with neuromuscular manifestations. This neurotoxicity has 2 components: an acute toxicity characterized by a rapid onset of cold-induced distal dysesthesia and/or paresthesia, muscular contractions, numbness, stiffness, usually transient but able to evolve into a chronic, persistent sensory peripheral neuropathy that eventually causes functional impairment. A persistent sensory peripheral neuropathy may develop with prolonged treatment, eventually causing superficial and deep sensory loss, sensory ataxia and functional impairment. This neurotoxicity is frequent, 80%of the patients and becomes chronic in 15 to 20%of the patients, sometimes irreversible. The mechanism of this neurotoxicity has been elucidated: an increased neuronal excitability is due to the action of oxaliplatin on voltage-gated sodium channels through chelation of calcium by the oxaliplatin metabolite. The prevention of this neurotoxicity is a major goal, taking in account the wide indications of this drug. Different approaches have been or are evaluated, based on pathogenic or practical concepts: 1) modifications of the administration schedule; 2) substances acting upon sodium channels : calcium-magnesium, carbamazepine, gabapentine, venlafaxin; 3) detoxifying agents and antioxydants: glutathion, amifostine, alphalipoic acid, tocopherol ; 4) substances used in other kinds of neuropathy: glutamine, alphalipoic acid; 5) neurotrophic factors: NGF, LIF; 6) oxaliplatin analogs, with a DACH platin, without oxalate. Calcium-magnesium infusion seem to be an efficient and safe approach. Further studies are necessary for a better understanding and prevention of this neurotoxicity, potentially severe.
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PMID:[Oxaliplatin neurotoxicity]. 1649 18

A 4-year-old female miniature dachshund presented with a history of progressive decrease in vision, neck pain, and ataxia for which an MRI was performed 21 days after the initial consultation. The optic nerves showed isointensities on T1- (T1W) and T2-weighted (T2W) images that were enhanced by the contrast medium. The optic chiasm was swollen. Other parts of the cerebral parenchyma, not only the visual pathway, showed symmetrical hyperintensities on T2W images. Cerebrospinal fluid showed increased anti-GFAP autoantibodies. The dog received corticosteroid therapy despite which she exhibited anorexia, vomiting, and lethargy. Hence, a follow-up MRI was repeated 30 days after the initial consultation in which T2W images showed enlargement of the hyperintense area. The dog died 45 days after the initial consultation. Postmortem pathological examination confirmed a diagnosis of granulomatous meningoencephalomyelitis (GME).
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PMID:Ocular granulomatous meningoencephalomyelitis in a dog: magnetic resonance images and clinical findings. 1926 40

A 10-month-old dachshund was presented with a recent history of episodic muscle rippling and generalised stiffness. An uncoordinated gait was present since eight weeks of age. On presentation the dog showed cerebellar-like ataxia and poor menace responses. Myokymic contractions were visible in the appendicular and truncal muscles and neuromyotonic discharges were detected by electromyography. Central components of the brain auditory evoked potentials were absent and the onset latencies of the tibial sensory-evoked potentials recorded at the lumbar intervertebral level were delayed. Response to slow-release phenytoin was temporary. The clinical picture together with the electrophysiological findings in this dachshund are identical to the findings in Jack Russell terriers with hereditary ataxia and neuromyotonia. This is the first description of neuromyotonia associated with clinical and electrophysiological signs of spinocerebellar ataxia in a breed other than the Jack Russell terrier. This case also strengthens the theory that spinocerebellar ataxia and neuromyotonia are related. An ion channel dysfunction is presumed to link both disorders.
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PMID:Neuromyotonia in a dachshund with clinical and electrophysiological signs of spinocerebellar ataxia. 2196 2

A 12-week-old female Wire-haired miniature dachshund presented with non-progressive ataxia and hypermetria. Due to the animal's clinical history and symptoms, cerebellar malformations were suspected. Computed tomography (CT) and magnetic resonance imaging (MRI) detected bilateral ventriculomegaly, dorsal displacement of the cerebellar tentorium, a defect in the cerebellar tentorium and a large fluid-filled cystic structure that occupied the regions where the cerebellar vermis and occipital lobes are normally located. The abovementioned cystic structure and the defect in the cerebellar tentorium were comparable to those seen in humans with Dandy-Walker syndrome. However, the presence of the cystic structure in the occipital lobe region was unique to the present case. During necropsy, the MRI findings were confirmed, but the etiology of the condition was not determined.
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PMID:Magnetic resonance imaging diagnosis of Dandy-Walker-like syndrome in a wire-haired miniature dachshund. 2371 92