Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a 9-year-old boy who developed subependymal giant-cell astrocytoma associated with tuberous sclerosis. Apart from a few hypopigmented skin patches, the boy's clinical picture was completely unremarkable until the onset of diplopia and vertigo reflecting increased intracranial pressure. Magnetic resonance imaging of the brain revealed subcortical hamartomas in addition to the intraventricular tumour. Seizures and mental retardation were absent. The boy's mother had suffered from seizures during childhood and presented with typical skin lesions. The importance of thorough examination and regular follow-up even in patients with oligosymptomatic variants of tuberous sclerosis is emphasized.
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PMID:[Oligosymptomatic Bourneville-Pringle tuberous sclerosis of the brain with giant cell astrocytoma]. 175 57

The prevalence of all neurological disorders in a Japanese town was calculated, with a result of 91.1 per 1,000 population. The prevalence of cerebrovascular disease was 28.8; myelopathy and/or radiculopathy caused by deformity of the spine or disc herniation, 23.9; neuralgia, 11.5; dementia, 10.4; peripheral nerve disturbance, 5.5; epilepsy, 4.4; Parkinson's disease, 2.0; mental retardation, 2.9; brain/spinal tumor, 1.4; headache, 10.8, and vertigo/dizziness, 4.4. The prevalence of headache and vertigo/dizziness was also calculated from the results of the questionnaires sent to inhabitants: headache, 79.6, and vertigo/dizziness, 60.8. Neurological disorders are common in Japan and likely to continue to increase.
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PMID:Prevalence of neurological disorders in a Japanese town. 881 3

Two types of glands are found in the outer third of the human earcanal: sebaceous glands that produce sebum and modified apocrine glands that produce apocrine sweat. Together, these substances make up cerumen, which serves to clean, lubricate, and, to some extent, protect the earcanal from bacteria and fungus. Excessive/impacted cerumen can cause tinnitus, vertigo, itching, pain, external otitis, and hearing loss. Two populations are known to have a high incidence of excessive/impacted cerumen: individuals with mental retardation and the elderly. Anthropologists have used cerumen type to tract human migratory patterns and epidemiologists have related cerumen type to breast cancer.
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PMID:Physiology, pathophysiology, and anthropology/epidemiology of human earcanal secretions. 943 85

Tuberous sclerosis complex is an autosomal dominant disorder affecting primarily the central nervous system, skin, and kidney caused by mutations in the TSC1 and TSC2 genes. Diagnosis is established with the identification of various neurocutaneous symptoms and multiple organ system hamartomas. The authors report on a 9-year-old patient with episodes of vertigo and headache followed by full spontaneous recovery. There was no history of seizures, mental retardation, or other neurologic sequelae, and psychomotor development was normal. Magnetic resonance imaging revealed pial angiomatosis of the left cerebellum and calcifications in the left parieto-occipital lobe consistent with the diagnosis of Sturge-Weber syndrome. At the age of 13, multiple renal angiomyolipomas and a single hypomelanotic macule were found, and subsequent imaging revealed several cortical tuberi. The diagnosis was confirmed by sequence analysis, which identified a novel missense mutation p.Ala460Thr in exon 13 of the TSC2 gene. Thus, mild tuberous sclerosis due to a hypomorphic mutation in TSC2 may present with isolated leptomeningeal angiomatosis.
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PMID:Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene. 1925 84

Episodic ataxia type 2 is a rare autosomal dominant disease characterized by recurrent attacks of vertigo and cerebellar ataxia. The disease was caused by mutations in the CACNA1A gene, on chromosome 19p. We perform a mutational screening in a group of 43 unrelated patients. Forty-two patients presented episodes of disequilibrium and ataxia, and one child was studied because of the occurrence of episodic torticollis. The genetic analysis showed 15 mutated patients (35%). In 13 cases we found novel CACNA1A gene mutations, including missense, protein truncating, and aberrant splicing mutations. Two truncating mutations lead to the uppermost premature stop so far reported, challenging recent hypotheses on dominant negative effect. In patients without CACNA1A mutations, molecular testing for CACNB4 gene mutations excluded this genetic subtype. Clinical features of mutated subjects mostly confirmed previous sign and symptoms associated with EA2, including paroxysmal torticollis and mental retardation. CACNA1A mutated patients have an earlier age at onset, interictal nystagmus, and abnormalities of ocular movements. A review of all CACNA1A mutations so far reported showed that they are mainly located downstream exon 18. Our data substantially increase the number of the described CACNA1A mutations, and propose clinical and molecular criteria for a more focused genetic screening.
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PMID:Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 2012 25

A Neuroepidemiological survey was carried at Malda district, 350 Km away from Calcutta; exactly at midpoint between Siliguri and Calcutta on a rural population of 37,286 (M 18,057; F 19,229; 1981 Census) under three Gram Panchayat areas with the help of non-professionals like Gram Panchayat members, ICDS workers, multipurpose health workers and motivated local youths, based on W.H.O. protocol (1981). House to house survey was carried out. Sensitivity reached 90 and Specificity 86. Total 961 individuals with neurological problems were screened and classified according to simple, but well defined criteria. Single disease was seen in 857 patients and 104 patients had double disease. Crude prevalence rate stands at ( 2856.26 per 1,00,000), epilepsy (305 per 1,00,000), vertigo (24.45 per 1,00,000), mental retardation (42.90 per 1,00,000), paralytic poliomyelitis (53.63 per, 1,00,000), movement disorders (26.81 per 1,00,000), spinal cord disorders (21 per 1,00,000), motor neurone disease (2.7 pre 1,00,000), development of speech and language (34 per 1,00,000). Age specific prevalence disease showed progressive increase in rate with advancing age upto 4th decade followed by a slightly decrease plateau upto 60 years of age and then sharp decline. Age and sex specific disease prevalence shows female dominance with maximum cases in 4th decade.
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PMID:Neuroepidemiology of major neurological disorders in rural Bengal. 2954 50