Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This presentation compares the preoperative voice recordings and the latest follow-up voice recordings, made 5 to 14 years postoperatively, of the first 300 patients with various degrees of spastic dysphonia whom we treated with recurrent laryngeal nerve (RLN) sections from 1975 to 1982. Voice therapy was usually given afterward and in some patients, when necessary, "fine tuning" surgery was performed later. The 243 patients who could be located were asked to answer a questionnaire regarding their voice production and communication abilities, and to make a voice recording. The preoperative and long-term postoperative voice recordings were analyzed by means of perceptual voice evaluation and acoustic analysis of the voice spectra. Fifteen percent developed recurrence of mild to moderate spasticity 6 to 24 months after the RLN section. This was curable with laser vocal cord thinning via direct laryngoscopy. Eighty-two percent of patients had little or no voice spasticity 5 to 14 years after their RLN section. The experimental alternative of injecting botulin directly into the vocal cord to temporarily paralyze it is discussed.
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PMID:Recurrent laryngeal nerve section for spastic dysphonia: 5- to 14-year preliminary results in the first 300 patients. 201 84

Moyamoya disease was originally defined as a characteristic syndrome of recurrent headaches, occlusion of the distal internal carotid arteries and the foggy (moyamoya) clusters of collateral vessels at the base of the brain as demonstrated by cerebral angiography. The etiology is unknown and pathobiology is poorly understood. We examined the intracranial arteries in 3 patients to demonstrate characteristic changes and to obtain a better understanding of the basis mechanisms of the disease. Controls were obtained from 3 normotensive patients who died as a result of cancer. Occluded internal carotid arteries were characterized by severe thickening of the intima with a dense luminal array of smooth muscle cells, a deeper less cellular zone, pronounced tortuosity of the internal elastica and thinning of the media. Collateral vessels were arterial in structure and were affected by similar proliferative changes in the intima, thinning of the media, and contorted internal elastica. Stainable lipids were not part of the typical components. Severe contortion of the internal elastica, medial damage and intimal proliferation may result from recurrent and sustained spasticity of the cerebral arteries. The distal lenticulostriate arteries showed severe medial damage similar to what is termed as a moth-eaten change in hypertensive patients dying of massive cerebral hemorrhage.
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PMID:Ultrastructural studies of cerebral arteries and collateral vessels in moyamoya disease. 646 67

There are several reports of the patients who have peculiar clinical presentation, that is, spastic paraparesis, mental disturbance and thinning of corpus callosum. We presented a sporadic case with similar symptoms. He was born by normal vaginal delivery without problems from consanguineous parents. His development had delayed since his infantile period. He started to have spasticity of the legs at the age 13 years and it worsened with advancing age. On examination at age 19, he was mentally slow, his full-scale IQ being 35. The tone in the arms was slightly increased and marked in the legs. The finger to nose test caused mild dysmetria. Rest of the neurological examinations were normal. MRI demonstrated characteristic thinning of corpus callosum, dominant in anterior portion. In addition, it showed wide cavum vergae and cavum septi pellucidi, and abnormal high intensity in periventricular white matter. The findings of MRI were possibly suggestive of the static developmental disturbance of brain.
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PMID:[A case of spastic paraparesis, mental retardation and thinning of corpus callosum]. 778 Dec 44

Autosomal dominant, autosomal recessive and X-linked recessive varieties of spastic paraplegia have been recognized. Recently, Japanese patients with complicated form of autosomal recessive hereditary spastic paraplegia (HSP) associated with hypoplasia of the corpus callosum have been reported by Iwabuchi et al. We describe a patient with complicated HSP (Iwabuchi type) and cataracta. A 38-year-old man (his parents were a second cousin) was born uneventfully. His motor development was normal. Motor and mental dysfunctions were noticed during the lower classes of an elementary school. He could ride a bicycle at 18 years old but gradually developed galt disturbance and confined to wheelchair since 35 years. He was admitted to our hospital on February 25, 1994. A neurological examination showed mental retardation, dementia, cataracta, cerebellar ataxia, rigidity, spasticity, severe atrophy of the distal muscles of his extremities, paraparesis, hyperreflexia, positive Hoffmann reflexes and Babinski signs, pes cavus and hammer toes. Brain MRI showed thinning of corpus callosum. Clinical and laboratory findings did not support a diagnosis of metabolic disorders showing spastic paraparesis including adrenomyeloneuropathy, Globoid leukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, Arginase deficiency. We considered that our patient was complicated form of HSP (Iwabuchi et al). However, cataract has not been found in Iwabuchi type of HSP. We discussed here other reports showing cataracta with spastic paraparesis.
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PMID:[A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta]. 877 6

Autosomal dominant hereditary spastic paraplegia (HSP) is genetically classified into three types, all of which are characterized by insidiously progressive spasticity of the lower extremities. Patients with a complicated form of autosomal recessive HSP associated with hypoplasia of the corpus callosum have been reported by Iwabuchi et al. Here we report a 64-year-old patient with a pure form of autosomal dominant HSP with thinning of the corpus callosum. He had been well until 12 years of age, when spasticity and weakness of the lower extremities began to develop. His symptoms gradually worsened and he had difficulty in walking at the age of 44. When he was 56 years old, he visited our hospital. Eleven family members over five generations have been affected, and anticipation, i.e., an apparent decrease in age of onset, has been observed. On admission, he had mild cataracts, equinovarus and pes cavus, and neurological examination revealed spastic paraplegia. However, the intelligence test was normal, and nystagmus, ataxia of the extremities, involuntary movement, orthostatic hypotension or urinary disturbance was not observed. Trinucleotide repeat diseases, such as Huntington's disease, spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, Machado-Joseph disease and dentatorubral-pallidoluysian atrophy, were excluded by DNA analysis. Brain MRI at the age of 64 revealed marked thinning of the corpus callosum. We considered this patient had a pure form of HSP. However, thinning of the corpus callosum has never been reported in autosomal dominant HSP.
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PMID:[A case of autosomal dominant, pure form spastic paraplegia with thinning of the corpus callosum]. 980 90

Neural cell adhesion molecules (CAM) play important roles in neural development, neurite outgrowth, axonal guidance, fasciculation and synapse formation. Neuropathological studies of X-linked hydrocephalus (XLH) associated with L1 CAM mutations emphasize marked hypoplasia of the pyramidal tract, agenesis of the corpus callosum and septum pellucidum, and a thin cerebral mantle with hypoplastic white matter, but there are no detailed studies of the cerebral cortex in the literature. We report clinical, neuroimaging, and neuropathological findings in three boys with XLH. All had severe congenital hydrocephalus with marked thinning of the cerebral mantle and severe development disabilities. The brain specimens from the three boys showed both pachygyria and polymicrogyria, hypoplasia of the medullary pyramids, hypoplasia of the corpus callosum, small anterior commissure, hypoplasia and poorly differentiated hippocampi. A small but patent aqueduct was present in all three brains. Despite the extensive cerebral malformations, the cortex in all three brains showed normal-appearing laminar cortical neuronal architecture and absence of gliosis. In XLH, it is likely that the poor developmental outcome of spasticity, contractures and severe mental retardation results from a disturbance of neuronal connectivity, fasciculation, and synapse formation rather than aqueductal stenosis, increased intracranial pressure, or abnormal neuroblast migration.
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PMID:The pachygyria-polymicrogyria spectrum of cortical dysplasia in X-linked hydrocephalus. 992 16

After atraumatic birth, three neonates presented with muscle hypotonia and weakness. Flaccid paresis of the upper extremities, spasticity of the lower extremities, dissociate sensory loss and autonomic dysfunction developed later. This ruled out the initial, tentative diagnoses of cerebral palsy, spinal muscular atrophy or hereditary neuropathy. Diagnostic imaging revealed marked thinning of the cervical spinal cord in all patients. The possible aetiology of these lesions is considered. In all cases, an antenatal or perinatal infarction is thought to be the most probable cause. Different clinical pictures following intrauterine spinal cord ischemia are discussed. Spinal cord lesion must be considered even after atraumatic birth.
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PMID:Cervical spinal cord atrophy in the atraumatically born neonate: one form of prenatal or perinatal ischaemic insult? 1269 May 68

The hereditary spastic paraplegias (HSPs) are a group of rare disorders with the predominant clinical feature of progressive spastic paraplegia. They are subdivided into pure and complicated forms according to whether the disorder is associated with other neurological abnormalities. We report on two unrelated female Caucasian patients with complicated HSP, aged 16 and 24 years, who showed progressive gait disturbance with spasticity and ataxia as well as cognitive impairment. Onset of symptoms was at age 3 and 10 years, respectively. MRI revealed mild diffuse non-progressive T (2)-signal alterations of cerebral white matter and thinning of the body and genu of the corpus callosum. Some similarity of clinical symptoms and MRI patterns with the phenotype of Mast syndrome prompted a mutation analysis of the SPG21 gene, encoding maspardin, which revealed a wild-type sequence in both patients. Clinical and neuroradiological features in our patients are diagnostic for complicated autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC, SPG11). This disorder, characterized by a typical MRI pattern and a progressive spastic paraplegia that may be associated with dementia and ataxia, may have an onset in early childhood and probably is one of the more common forms of complicated HSP.
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PMID:Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. 1613 54

Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French-Canadian cases belonging to 17 families affected by an autosomal recessive spastic ataxia associated with frequent white matter changes. The fact that 59% of these families have a genealogical relationship to the Portneuf County of Quebec suggests that this is a new form of ataxia with a regional founder effect. All cases present with cerebellar ataxia and spasticity. There is great intrafamilial and interfamilial variability, as illustrated by the spectrum of age of diagnosis (range: 2-59 years, mean: 15.0) and the presence of white matter changes on MRI in 52.4% of cases. The more severe cases have spasticity from birth, scoliosis, dystonia and cognitive impairment and were considered cases of cerebral palsy. Brain MRI constantly shows cerebellar atrophy, which in some cases may be associated with cortical atrophy, leucoencephalopathy and corpus callosum thinning. A genome wide scan uncovered linkage of three families to marker D2S2321 localized on chromosome 2q33-34. Linkage analysis confirmed that all families are linked to the same region [multipoint log of the odds (LOD) score of 5.95]. Haplotype analysis and allele sharing suggest that one common mutation may account for 97% of carrier chromosomes in Quebec. The uncovering of the mutated gene may point to a common pathway for pyramidal and cerebellar degeneration as both are often observed in recessive ataxias and complicated paraplegias.
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PMID:A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. 1667 89

Isochromosome 18p (i(18p)), is a rare chromosomal disorder that occurs once in about every 140,000 live births and affects males and females equally. Most of the cases are due to a de novo formation but in the literature familial cases were reported. Here, we report a young female with dysmorphic features as microcephaly, frontal bossing, strabismus, low-set ears, small pinched up nose, small mouth, high palate and long philtrum, presenting a small metacentric chromosome. Besides the dysmorphic features she also has gastroesophageal reflux, spasticity, strabismus and specific brain MRI findings as dilatation of the right lateral ventricle trigonum occipital horn (colpocephaly), thinning of the corpus callosum especially of the posterior part and abnormality of the white matter myelinisation at the frontal and occipital region. Particularly the MR findings are rarely reported in the literature.
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PMID:A case with a rare chromosomal abnormality: isochromosome 18p. 2042 32


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