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 metastasizing glioma in a 4-year-old boxer bitch is described. Clinical symptoms included ataxia, blindness, and increased cervical pain sensation. The tumor metastasized to an extraordinary extent via the cerebrospinal fluid. Tumor masses surrounded the whole spinal cord including the cauda equina. Histological examination revealed a variable morphology of the glioma. Immunohistochemical investigations showed some tumor cells reacting with antibodies specific to GFAP and S-100 protein. In contrast, NSE, 200 kd NF, vimentin, and desmin could not be demonstrated within tumor cells. The results are discussed in detail.
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PMID:[Metastasizing glioma in a Boxer]. 194 88

Medulloblastoma containing a striated muscle component is a rare embryonal cerebellar neoplasm, designated as medullomyoblastoma. We report here a case of medullomyoblastoma in a 9-year-old boy who developed signs of increased intracranial pressure and truncal ataxia. MRI disclosed a well-defined, egg-sized mass with heterogenous intermediate signal intensity in the cerebellar vermis, which compressed the 4th ventricle. The resected tumor consisted of hyperchromatic, undifferentiated neuroectodermal cells and desmin-positive myogenic cells with striation, compatible with medullomyoblastoma. MIB labeling index was 8% in undifferentiated cells but no labeling was seen in the myogenic cells. In addition, there were areas of calcification and psammoma bodies, which was a rare finding in this tumor.
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PMID:Medullomyoblastoma with calcification: a case report. 1818 37

Joubert syndrome (JBTS) is a predominantly autosomal recessive neurodevelopmental disorder that presents with characteristic malformations of the cerebellar vermis, superior cerebellar peduncles and midbrain in humans. Accompanying these malformations are a heterogeneous set of clinical symptoms, which frequently include deficits in motor and muscle function, such as hypotonia (low muscle tone) and ataxia (clumsiness). These symptoms are attributed to improper development of the hindbrain, but no direct evidence has been reported linking these in JBTS. Here, we describe muscle developmental defects in a mouse with a targeted deletion of the Abelson helper integration site 1 gene, Ahi1, one of the genes known to cause JBTS in humans. While FVB/NJ Ahi1-/- mice display no gross malformations of the cerebellum, deficits are observed in several measures of motor function, strength, and body development. Specifically, Ahi1-/- mice show delayed physical development, delays in surface reflex righting as neonates, and reductions in grip strength and spontaneous locomotor activity as adults. Additionally, Ahi1-/- mice showed evidence of muscle-specific contributions to this phenotype, such as reductions in 1) myoblast differentiation potential in vitro, 2) muscle desmin expression, and 3) overall muscle mass, myonuclear domain, and muscle fiber cross-sectional area. Together, these data suggest that loss of Ahi1 may cause abnormalities in the differentiation of myoblasts to mature muscle cells. Moreover, Ahi1 loss impacts muscle development directly, outside of any indirect impact of cerebellar malformations, revealing a novel myogenic cause for hypotonia in JBTS.
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PMID:Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement. 3069 85