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)

We have observed five individuals who appear to represent a unique subgroup of patients with traumatic brain injury (TBI). Because of the prominence of severe ataxia, this group has been labelled the 'ataxic subgroup'. These individuals are distinguished by both clinical course and outcome, including severe ataxia, prolonged coma and prolonged post-traumatic amnesia (PTA). They distinguish themselves from other severely impaired TBI patients in that they spend a relatively longer length of time prior to the establishment of volition, but progress rapidly through the period of confusion. We hypothesized that this group is unique in that they have suffered Grade III diffuse axonal injury (DAI) with no or minimal complications due to other primary or secondary brain damage. In order to investigate these hypotheses, a retrospective file review of a selected group of 72 patients was undertaken to determine the specificity and sensitivity of two diagnostic criteria. The existence of severe Grade III DAI without other primary or secondary brain damage was presumed if severe ataxia was present in conjunction with normal CT scans. Results of this review indicated that 33% of the population demonstrated severe ataxia, although only 11% also had normal CT scans. These dual criteria were neither adequately sensitive nor specific to define the five patients who comprised the 'ataxic subgroup'. When rate of clearing the confused period of PTA was added to the diagnostic criteria, specificity improved. Although this attempt to define this subgroup empirically was not entirely successful, further attempts to delineate this group are important in that prognosis for clearing PTA is good despite early indicators of poor outcome.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The ataxic subgroup: a discrete outcome after traumatic brain injury. 239 Jun 51

Utilizing a variation of the Fink-Heimer method, we examined the extent and location of axonal and terminal degeneration within the chicken cervical spinal cord, brainstem and cerebellum resulting from a single subcutaneous dose of bis(1-methylethyl)phosphorofluoridate (DFP). The effects of DFP on the activities of whole-brain neuropathy target esterase (NTE) and cholinesterase (ChE) were also assessed as were the development and severity of clinical signs characteristic of organophosphorus-induced delayed neuropathy (OPIDN). Both whole brain NTE and ChE activities were maximally inhibited during the first 24 h post-exposure, showing gradual recovery over a period of 3 weeks. OPIDN clinical signs were not observed at 7 days post-DFP but progressed to severe ataxia by day 14 and paralysis by day 21. There was a relative absence of degeneration at 7 days, a dramatic increase in degeneration density at 14 days, and high density degeneration at both 21 and 28 days. Cervical spinal and medullary tracts containing axonal degeneration included the fasciculus gracilis, dorsal and ventral spinocerebellar tracts, spinal lemniscus, and the intramedullary portions of the glossopharyngeal and vagus nerves. Brainstem nuclei containing terminal degeneration included the lateral cervical, gracile-cuneate, external cuneate, and inferior olivary nuclei, the nucleus tractus solitarius, and the lateral and paragigantocellular lateral reticular nuclei. Mossy fiber degeneration was also present in cerebellar folia I-Vb. These results show that exposure to DFP causes axonal and terminal degeneration in ascending spinal tracts, brainstem nuclei and cerebellar folia associated with the transmission of somatic and visceral sensory information.
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PMID:Selective axonal and terminal degeneration in the chicken brainstem and cerebellum following exposure to bis(1-methylethyl)phosphorofluoridate (DFP). 239 6

Nerve conduction studies, median nerve somatosensory (SEPs) and pattern-reversal visual evoked potentials (VEPs) were recorded in 10 patients with late onset ataxia. Nine patients had dysfunction of somatosensory pathways, eight of them axonal polyneuropathy in nerve conduction measurements, and four had also impaired impulse conduction along the visual pathways. Abnormalities in records of evoked potentials occurred as prolonged latencies rather than reduced amplitudes. The observed dysfunction of peripheral and central pathways was not related to the duration or the severity of the clinical involvement by the disease. It is emphasized, however, that there seemed to be a relationship between the prolonged SEP latencies and the impaired peripheral nerve conduction values and between the diminished VEP amplitudes and the most delayed VEP latencies.
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PMID:Involvement of somatosensory and visual pathways in late onset ataxia. 244 43

A multicentric study of 15 cases of Rett syndrome selected with the diagnostic criteria according HAG-BERG et al: female sex, normal pre and perinatal period, normal psychomotor development through the first months of life, early dementia between 1-3 years of age with autistic behaviour, loss of acquired purposeful hand skill, "washing hands" stereotypies, normal head circumference at birth with later deceleration of head growth and truncal ataxia with gait apraxia. Waking EEG showed unspecific abnormalities while sleep recording demonstrated extremely frequent multifocal spike and sharp waves mainly over the rolandic region and generalized, and also pseudo-periodic suppression of background activity. In 3 cases the EMG showed a peripheral axonal neuropathy. Only in one case we found hyperammonemia. Karyotypic studies performed in 12 cases demonstrated non specific fragile sites. CT scan was normal in almost all cases. The QD was extremely low.
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PMID:[Rett's syndrome: study of 15 cases]. 245 8

The macular mutant mouse shows X-linked recessive inheritance and its hemizygote (Ml/y) is considered to be an appropriate model of Menkes kinky hair disease (MKHD). In this study the homozygote (Ml/Ml) was bred by coupling CuCl2-treated Ml/y with Ml/+ and was clinically and neuropathologically examined. The Ml/Ml had white fur color and curly whiskers from day 3, showed ataxia and tonic seizure on day 8 and gradually lost weight after day 10. It died with severe emaciation around day 15. These clinical features were improved by CuCl2 injection. Quantitative analysis showed that the dendritic arborization of the pyramidal cell in the treated Ml/Ml was delayed on days 14, 20, 30, 45 and 90 in comparison with that of the age-matched +/y. In the cerebellum of the Ml/Ml on day 14, some of the Purkinje cells showed abnormal changes such as somal sprouts, spine-like structures on the surface of the soma and stem dendrites, thick stem dendrites, multiple focal swellings of the stem and distal dendrites, reduction in the size of dendritic trees and axonal focal swellings. These changes were gradually improved in the Ml/Ml with CuCl2 treatment after day 20, with the exception of the multiple focal swellings of the stem and distal dendrites. The dendritic focal swelling gradually decreased after day 45. These clinical and neuropathological features of the Ml/Ml are almost same as those of the Ml/y. In our mutant mouse, when the treated Ml/Ml is coupled with the treated Ml/y all offspring from the Ml/Ml are genetically Ml/y or Ml/Ml. Our study indicates that these fetal mice may be useful for studying the pathological and biochemical condition of prenatal MKHD.
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PMID:Golgi study on the homozygote (Ml/Ml) of macular mutant mouse. 247 62

A girl aged 12 y, 9 mo, suffered from a progressive neurodegenerative disorder marked by ataxia, extrapyramidal symptoms, and convulsions. A skin biopsy showed axonal pathology that emphasized axonal segments enlarged by mitochondria, dense bodies, and lysosomal residual bodies of the membranous cytoplasmic body type. This ultrastructural pathology suggested GM2 gangliosidosis which was shown to be a B1 variant by specific biochemical studies, although conventional techniques had failed to detect GM2 gangliosidosis. The B1 variant is marked by a deficient activity of beta-hexosaminidase A towards one substrate, and by an almost normal activity towards another. Both parents showed a diminished activity towards the sulfated substrate, suggesting a heterozygous state, and almost normal activity with the second substrate type.
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PMID:B1 variant of GM2 gangliosidosis in a 12-year-old patient. 252 32

Acute autonomic and sensory neuropathy (AASN), one subtype of acute pandysautonomia, in which dorsal root ganglia and autonomic ganglia are involved is uncommon. Little is so far known on central nervous system involvement in AASN. In the present paper we described a rare case of AASN associated with the central nervous system manifestations such as galactorrhea-amenorrhea syndrome and intractable anorexia. A 30-year-old woman rapidly developed burning pain and numbness in her arms and legs as well as orthostatic syncope. She had severe anorexia and no no menstruation from onset. On physical examination, she was emaciated. There was marked orthostatic hypotension with tachycardia. Skin was dry. Moderate galactorrhea was detected. Neurological examination showed prominent paresthesia and dullness of superficial sensation, predominantly to pinprick and thermal stimuli, segmentally over the neck, occipital scalp, and extremities. Deep sensation was intact. She had no weakness or ataxia. Deep tendon reflexes were almost normal. NCV and SEP were normal, while EEG was abnormal. Sural nerve biopsy demonstrated axonal degeneration with the loss of myelinated, predominantly in small-caliber fibers, and unmyelinated fibers. The levels of HVA and MHPG in CSF were decreased. The autonomic nervous function tests revealed postganglionic dysfunction. alpha-adrenergic system was predominantly impaired, while beta-adrenergic system was relatively preserved. The endocrinological studies demonstrated mild or moderate elevation of PRL basal value and hyper-response of PRL and LH for TRH and LH-RH loading test, which suggested disorder of the hypothalamo-hypophysial system. Cranial MRI showed moderate dilatation of the 3rd ventricle.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Acute autonomic and sensory neuropathy associated with galactorrhea-amenorrhea syndrome and intractable anorexia]. 255 96

A new neurological mutant mouse shows a gracile axonal dystrophy (GAD). The degenerative lesion develops by postnatal day 80, first appearing in the most rostral portion of the gracile fascicles. This lesion then extends caudally to involve the entire gracile fascicles. Many axonal swellings (dystrophies) also appear in the degenerative lesions in proportion to their severity. The clinical findings develop in keeping with these pathological changes, and are characterized by tremor, ataxia and difficulty in moving the hind limbs. These start around day 80, and progress gradually to death about day 150. The lumbar dorsal roots, their spinal root ganglia and peripheral nerves are normal. Electron microscopic study shows dystrophic axons packed with neurofilaments, mitochondria and tubulovesicular structures. These may reflect some stagnation of axonal transport. The distribution of the lesions suggest that the GAD mouse has a central distal axonopathy involving primary sensory neurons of the lumbar dorsal root ganglia.
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PMID:Neuropathology of gracile axonal dystrophy (GAD) mouse. An animal model of central distal axonopathy in primary sensory neurons. 255 88

Sural nerve biopsy was done 7 cases of cancer patients associated with peripheral neuropathy. There were 3 cases of lung carcinoma and one each of pancreas adenoma, seminoma, sigmoid carcinoma and chondrosarcoma of the femur. The neurological features manifested themselves with sensory pattern of neuropathy associated with ataxia in one case, sensorimotor neuropathy in 3 cases, and idiopathic polyneuropathy, peripheral neuropathy with proximal myopathy and neuropathy with paraneoplastic cerebellar syndrome each in one case, 6 patients showed neuropathy before malignancy was discovered and only one patient had neuropathy after the onset of carcinoma. Sural nerve biopsy studied in all the 7 patients with light and electron microscope revealed no infiltration of carcinomatous cells in the sural nerve fascicles. There was severe loss of myelinated fibers and severely axonal degeneration in one patient. Another patient showed segmental demyelination (5.03 x 10(3)/mm2). There was evidence of both axonal degeneration and demyelination associated with moderate reduction in the number of the myelinated fiber density ranging from 1.02 to 4.35 x 10(3)/mm2. In 6 cases, mononuclear cells were seen in nerve fascicles under the electron microscope. The characteristic pathological findings, their relation with the duration and onset of the cancer and some ideas regarding the pathogenesis are discussed.
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PMID:[Carcinomatous neuropathy: clinical and pathologic findings of sural nerve biopsy in 7 cases]. 255 34

Attention has recently been directed toward patients having a polyneuropathy and a monoclonal IgM anti-myelin-associated glycoprotein (anti-MAG) antibody. The possibility of a pathogenetic role for the anti-MAG antibody in the evolution of the polyneuropathy and in the development of central nervous system signs, including tremor and ataxia, remains unresolved. In 5 patients with this syndrome whose clinical courses were followed closely, in 1 of whom a complete postmortem examination of the nervous system was performed, we made the following observations: the anti-MAG antibody did not localize to the compact layer of the myelin sheath in affected nerves, but did localize to areas of myelin splitting; anti-MAG antibody present in the sural nerve of an affected individual for 7 years was not associated with progressive pathology; anti-MAG antibody was not deposited in the central nervous system of an affected individual, although the antibody did bind to these same tissues in vitro; deposition of anti-MAG antibody observed at postmortem examination did not correlate with the degree of pathological change; and study of the peripheral nervous system favored a primary axonal neuropathy with secondary demyelination.
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PMID:Polyneuropathy and IgM monoclonal gammopathy: studies on the pathogenetic role of anti-myelin-associated glycoprotein antibody. 258 96


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