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 5-month-old female Kelpie developed paraparesis, hind limb ataxia and spinal hyperaesthesia 4 days after ovariohysterectomy. Neurological examination demonstrated upper motor neuron signs in the pelvic limbs with lower motor neuron signs in the tail. Cerebrospinal fluid analysis demonstrated an increased protein concentration and marked eosinophilic pleocytosis. The dog was known to have eaten rats, snails and slugs. A tentative diagnosis of neural angiostrongylosis was made and later confirmed using an ELISA based on soluble antigens obtained from larval 4 Angiostrongylus cantonensis. Antibody titres from the patient's serum and CSF were 800 and 6400, respectively. The dog was treated successfully with prednisolone. ELISA testing of serum may provide a non-invasive means for diagnosing neural angiostrongylosis in dogs.
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PMID:Antemortem diagnosis of canine neural angiostrongylosis using ELISA. 1508 Apr 23

We report a 52-year-old woman with primary progressive multiple sclerosis (PPMS) presenting with chronic progressive memory impairment. From a couple of years prior to admission, she had developed impairment of her short-term memory. For example, she forgot her nephew's name, and spoke the same phrases again and again. She also sometimes forgot to turn off her gas stove and forgot things she bought in shops. Moreover, her mental activity gradually decreased and she became apathetic. However, she did not note her memory impairment, and had no hallucinations. She was admitted to our hospital on 20 May, 2003 because donepezil had been ineffective for treating her memory impairment. Neurologically, she showed bilateral horizontal gaze nystagmus, mild limb ataxia on the left and mildly ataxic gait. Neuropsychological examinations showed mildly impaired cognitive function, e.g., MMSE 25/30, WAIS-R full IQ 69 and especially in verbal short memory, which may represent temporal lobe dysfunction. Moreover, Benton's visual memory test revealed marked visual short-term memory impairment, while impaired performance on a Kana picking up test suggested mild to moderate attention impairment, which could have represented frontal lobe dysfunction. Brain MRI showed multiple T2-high plaque lesions close to the bilateral lateral ventricles, and bilateral optic nerve lesions enhanced by gadolinium. Also, spinal cord MRI showed a gadolinium enhanced lesion at Th5 on the left. Cerebral spinal fluid (CSF) examination showed normal cell count and protein level, and undetectable oligoclonal bands (OCB), but an elevated IgG index (1.1, normal < 0.85). Visual evoked potentials (VEPs) showed prolonged P100 latency bilaterally, indicating subclinical optic nerve lesions. She was thus diagnosed as having PPMS according to McDonald's diagnostic criteria for MS. 99mTc Single photon emission computed tomography (SPECT) showed a decreased cerebral blood flow (CBF) in the bilateral frontal and temporal lobes, which was consistent with her clinical features. PPMS patients generally present with chronic progressive spastic paraparesis and/or cerebellar ataxia. Cognitive impairments observed in PPMS are generally thought to be due to white matter lesions, i.e., subcortical dementia. However, some recent reports have shown MS patients with short-term memory impairment (antegrade amnesia) similar to cortical dementias such as Alzheimer's disease (AD). In such MS cases, visual short-term memory impairment seems characteristic of their cognitive impairment compared to AD cases. As well, the present case showed visual memory impairment as evaluated by Benton's memory test. Parietal and frontal lobes are reported to be important for verbal and visual working memory, respectively. Thus, in the present case, decreased CBF in the frontal and temporal lobes, which could have been due to a disconnection between cortices and subcortices caused by the white matter lesions, is consistent with the type of her cognitive dysfunction, i.e., notable visual memory impairment. PPMS may thus be an important disease as a differential diagnosis for chronic progressive dementia. Further neuropsychological and functional imaging studies will be necessary to achieve a better understanding of the mechanisms of cognitive impairment in PPMS.
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PMID:[A case of primary progressive multiple sclerosis with onset of memory impairment]. 1596 Jan 71

X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder characterized by adrenal, gonadal and nervous system dysfunction. Patients usually develop spinal cord degeneration with involvement of the cerebral white matter. While a spinocerebellar variant has been described, the selective involvement of cerebellar white matter is very rare. We report the case of a patient affected by X-ALD whose clinical and magnetic resonance imaging (MRI) results resembled olivopontocerebellar atrophy. He was a 29-year-old mentally retarded man, who began to complain of slowly progressive gait ataxia after an 8-year history of Addison's disease. Serial MRI revealed marked cerebellar atrophy involving the inferior cerebellar vermis and brainstem, but sparing the supratentorial white matter. The diagnosis of X-ALD was confirmed by elevated levels of very long-chain fatty acids in the serum. After 2 years follow-up, the patient developed spastic paraparesis. The patient represents an unusual clinical presentation of X-ALD, as further confirmed by the MRI results. Consequently, cerebellar symptoms should be considered as a clinical presentation of X-ALD. Early recognition of this rare disorder would be useful for genetic counselling and therapy.
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PMID:X-linked adrenoleukodystrophy with olivopontocerebellar atrophy. 1624 83

A 5-month-old, female, Aberdeen Angus heifer presented to the veterinary medical teaching hospital for evaluation of slowly progressive hindlimb ataxia. The calf was clinically normal until 4 months of age, following routine pregnancy and delivery. Neurologic examination revealed marked symmetric spastic hindlimb paraparesis. Thoracolumbar radiographs and cerebrospinal fluid (CSF) analysis were unremarkable. A presumptive diagnosis of T3-L3 myelopathy was made, and neurologic status remained static for 3 months with broad-spectrum antibiotic and nonsteroidal anti-inflammatory therapy. Additional diagnostic tests were refused, and a necropsy was performed following euthanasia. A moderately well delineated, reddish-tan, soft mass 18 mm in diameter replaced 80% of the fourth lumbar spinal cord segment. Histologic examination revealed two distinct features: undifferentiated, primitive, polygonal-to-round cells with typical morphologic characteristics of primitive neuroectoderm; and interspersed areas containing myelinated axons and cells with neuronal differentiation. Immunohistochemical examination confirmed the presence of primitive neuroepithelium and cells with neuronal differentiation.
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PMID:Neuroblastoma with neuronal differentiation in the spinal cord in an Aberdeen Angus heifer calf. 1653 39

The neuroaxonal dystrophies (NADs) in human beings are fatal, inherited, neurodegenerative diseases with distinctive pathological features. This report describes a new mouse model of NAD that was identified as a spontaneous mutation in a BALB/c congenic mouse strain. The affected animals developed clinical signs of a sensory axonopathy consisting of hindlimb spasticity and ataxia as early as 3 weeks of age, with progression to paraparesis and severe morbidity by 6 months of age. Hallmark histological lesions consisted of spheroids (swollen axons), in the grey and white matter of the midbrain, brain stem, and all levels of the spinal cord. Ultrastructural analysis of the spheroids revealed accumulations of layered stacks of membranes and tubulovesicular elements, strongly resembling the ultrastructural changes seen in the axons of human patients with endogenous forms of NAD. Mouse NAD would therefore seem a potentially valuable model of human NADs.
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PMID:Spontaneous murine neuroaxonal dystrophy: a model of infantile neuroaxonal dystrophy. 1654 71

Triple adjacent thoracolumbar disc protrusions causing moderate to severe spinal cord compression were diagnosed by magnetic resonance imaging in two German shepherd dogs with marked paraparesis and pelvic limb ataxia. Both cases were managed by selective hemilaminectomy, partial annulectomy and bilateral quadruple vertebral body stabilisation using novel canine locking fixation plates (SOP). The stabilisation of multiple vertebrae in the thoracolumbar spine was possible because the plates could be contoured with six degrees of freedom. Spinal pain resolved and neurological function improved in both dogs. Screw breakage was evident in one dog five months following surgery.
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PMID:Vertebral stabilisation and selective decompression for the management of triple thoracolumbar disc protrusions. 1863 Dec 22

The objective of this work was to evaluate the long-term efficacy of a proposed therapeutic protocol in 12 dogs with a tentative diagnosis of degenerative myelopathy, followed-up for a 6-month period. Twelve dogs fulfilling the antemortem inclusion criteria (breed, age, adequate vaccination, history of progressive posterior ataxia and/or paraparesis, no radiographic and myelographic abnormalities in the spinal cord and vertebral column) were allocated. All these dogs presented signs of thoracolumbar syndrome (T3-L3), scored as grade I (mild to moderate ataxia and paraparesis) in 10 and grade II (severe ataxia and ambulatory paraparesis) in 2 cases. Treatment included the use of epsilon-aminocaproic acid and N-acetylcysteine, supplemented with vitamins B, C and E. Prednisolone was given for the first two weeks and upon worsening of neurological signs. Daily exercise, performed as walking or swimming, was strongly recommended. Clinicopathological evaluation was normal in all 12 dogs, and survey radiographs and myelograms did not show spinal cord compression. Magnetic resonance imaging (MRI), performed only in 4 dogs, did not disclose compressive disorders or intramedullary lesions. Neurological signs were progressively worsening in all 12 animals, eventually resulting in severe paraparesis (grade III) or paraplegia (grade IV). The applied medications do not appear to be an attractive alternative to conservative management (physiotherapy) or euthanasia in canine degenerative myelopathy, irrespective of its chronicity.
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PMID:Evaluation of a proposed therapeutic protocol in 12 dogs with tentative degenerative myelopathy. 1882 81

The second most frequent central nervous system involvement pattern in Langerhans cell histiocytosis (LCH) is a rare condition documented in a number of reports called "neurodegenerative LCH" (ND-LCH). Magnetic resonance images confirming the presence of the disease usually demonstrate striking symmetric bilateral hyperintensities predominantly in the cerebellum, basal ganglia, pons, and/or cerebral white matter. The authors here describe for the first time in the literature a patient with ND-LCH and concomitant hydrocephalus initially treated using endoscopic third ventriculostomy (ETV). This 9-year-old boy, who had undergone chemotherapy for skin and lung LCH without central nervous system involvement at the age of 10 months, presented with acute ataxia, headaches, and paraparesis and a 1-year history of gradually increasing clumsiness. Magnetic resonance images showed obstructive hydrocephalus at the level of the aqueduct of Sylvius and signs of ND-LCH. After registering high intracranial pressure (ICP) spikes with an intraparenchymal pressure monitor, an ETV was performed. A second ETV was required months later because of ostomy occlusion, and finally a ventriculoperitoneal shunt was placed because of ostomy reocclusion. Endoscopic third ventriculostomy was initially considered the treatment of choice to divert cerebrospinal fluid without leaving a ventriculoperitoneal shunt and to obtain biopsy specimens from the periinfundibular recess area. The third ventriculostomy occluded twice, and an endoscopic aqueduct fenestration was unsuccessful. The authors hypothesized that an inflammatory process related to late ND disease was responsible for the occlusions. Biopsy specimens from the infundibular recess and fornix column did not show histopathogical abnormalities. Increased ICP symptoms resolved with cerebrospinal fluid diversion. This case is the first instance of ND-LCH with hydrocephalus reported in the literature to date. Shunt placement rather than ETV seems to be the favorable choice in relieving elevated ICP.
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PMID:Failure to treat obstructive hydrocephalus with endoscopic third ventriculostomy in a patient with neurodegenerative Langerhans cell histiocytosis. 1897 98

A 55-year-old woman presented with a 10-yeai history of a progressive gait disorder. Her examination showed a spastic paraparesis with brisk deep tendon reflexes, but only minimal limb ataxia and no evidence for a sensory neuropathy The patient was found to be homozygous for the GAA trinucleotide repeal diagnostic of Friedreich's ataxia The presentation of Friedreich's ataxia as a spastic paraparesis reinforces the appreciation of the variable phenotype of this disease.
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PMID:Late-Onset Friedreich's Ataxia Presenting as a Spastic Paraparesis. 1907

The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. Patients present with a characteristic facial appearance, narrow nose, and hypoplastic alae nasi. Neurological problems, including dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures, are known to occur as well as conductive hearing loss, cardiac defects, and anomalies of the skin, hair, and nails. In 2003, our analysis of 17 ODDD families revealed that each had a different mutation within the human gap junction alpha 1 (GJA1) gene which encodes the protein connexin 43 (Cx43). Since then at least 17 publications have identified an additional 26 GJA1 mutations and in this study, we present 28 new cases with 18 novel GJA1 mutations. We include tables summarizing the 62 known GJA1 nucleotide changes leading to Cx43 protein alterations and the phenotypic information available on 177 affected individuals from 54 genotyped families. Mutations resulting in ODDD occur in each of the nine domains of the Cx43 protein, and we review our functional experiments and those in the literature, examining the effects of 13 different Cx43 mutations upon gap junction activity.
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PMID:GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 1933 53


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