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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Comparison of the properties of blood platelets and serotonergic synaptosomes suggests that the human platelet can serve as an appropriate model for the transport, metabolism, and release of serotonin (5-HT) by CNS serotonergic neurons. The study of blood 5-HT levels and platelet 5-HT pharmacodynamics in patients with a variety of psychiatric and neurologic disorders has generated interesting leads into possible abnormalities of CNS 5-HT neurons in these patients. This article reviews the experimental evidence, which uses the human platelet model to investigate neurotransmitter-related abnormalities in Down syndrome, mental retardation, infantile autism, hyperactivity syndromes (minimal brain dysfunction), schizophrenia, affective disorders, Duchenne muscular dystrophy, Parkinson disease, Huntington chorea, and migraine headaches.
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PMID:The human platelet. A diagnostic and research tool for the study of biogenic amines in psychiatric and neurologic disorders. 14 Jun 32

This study was undertaken to determine the profile of migraine in Nigerian children, as earlier reports on migraine from Africa dealt mostly with the adult population. Migraine constituted 5.7% of all new referrals seen in the Child Neurology Clinic over a 44 month period. The overall profile is not different from that reported for other racial groups. Haemoglobin AS was found to be more frequent among children with migraine than in the general population, although this difference did not attain statistical significance. Childhood migraine is probably commoner than this study indicates. This may be partly due to the fact that practitioners in the less developed countries have to deal with the more pressing problems of malnutrition, infections, chronic motor handicaps, mental retardation and epilepsy.
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PMID:Migraine in Nigerian children--a study of 51 patients. 176 24

We report cystinuria and symptoms of cerebellar atrophy in a 45-year-old man. His parents were first cousins, and many members of his family had stones of urinary tract or gait impairment. Neurological examination disclosed cerebellar signs resembling those of spinocerebellar degeneration. Urinalysis disclosed high cystine, lysine, ornitine and arginine output. Cystine was 1153.8 micro mol/day (normal range, 22-170); lysine, 3443.9 (normal range, 44-1000); ornitine, 283.8 (normal range, 7-40); and arginine, 154.0 (normal range, 9-50). Neurological complications reported to be associated with cystinuria include mental retardation, muscular dystrophy, hypotonia and dwarfism, mongolism, paroxysmal dyskinesia, myopathy, migraine, spastic paraplegia, multiple sclerosis, subacute combined degeneration and cranial polyneuropathy. Cerebellar signs have been reported in only two cases, and to our knowledge, this is the first case of cystinuria with cerebellar atrophy ever reported. Some common metabolic errors may have caused both disorders, although they also may have developed independently.
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PMID:[Cystinuria with symptoms of cerebellar atrophy--a case report]. 189 74

An epidemiological study of mentally retarded persons in a Norwegian municipality was carried out in order to collect data about prevalence, causes, medical treatment and follow-up. The number of mentally retarded was found to be twice the average for the country as a whole. The causes of mental retardation indicated that this was due to a low degree of urbanization--a stable population, larger families, more births at home and long distance from hospital. The survey revealed that medical care had been seriously neglected. Several patients had never been given a diagnosis, and the number of contacts with a doctor for any reason was far below the average for the rest of the local population. Several were found to have unknown impaired vision and hearing, and many were being inadequately treated for common diseases like migraine, myalgia, stomach pain, diarrhoea etc. The neglect was worse among those living at home than among those living in the institutions for the mentally retarded.
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PMID:[The mentally retarded in the local community--occurrence, causes, medical treatment and follow-up]. 236 42

The objective of this study is to investigate the type, importance, and incidence of hereditary diseases in patients at the National Institute of Neurology and Neurosurgery in Mexico City. A review of 6,258 files indicated that hereditary diseases represent an important problem for the Institute. Of the diseases with the highest incidences, hereditary factors have an important role in seven (epilepsy, depression, facial palsy, schizophrenia, mental retardation, migraine, and Parkinson's disease). Diseases of known monogenic etiology represent 1.5% of all the cases.
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PMID:Importance of hereditary disease at a Neuropsychiatric Institute in Mexico City. 259 29

Some significant advances in the field of pediatric neurology are reviewed. For many constitutional disorders, concepts and diagnostic procedures have progressed from various genetic techniques or from protein labeling in situ. Many neurodegenerative disorders, some poorly-defined metabolic diseases, and several syndromes associating mental retardation with neurologic or extraneurologic malformations have been characterized. In addition, for many disorders viewed as 'poorly specific' (mental retardation, epilepsy, migraine), familial forms have permitted us to define the first genes involved. In 'acquired' disorders, new data come from clinical trials (antiepileptic, anti-inflammatory drugs) rather than definite conceptual advances. Finally, clinics and biology are no longer the only approaches to brain functions, and clinical neurophysiology could encounter a second wind thanks to the techniques of functional imaging, especially in the fields of developmental neuropsychology.
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PMID:[What is new in pediatric neurology?]. 1070 Oct 65

Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.
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PMID:CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. 1106 Dec 67

An abnormally expanded CAG repeats (25, normal; 4-20) was identified in the alpha 1A voltage-dependent calcium channel (CACNA1A) gene of a 50-year-old Japanese man with 25 years history of schizophrenia. At age 45, he first noted unsteadiness of standing and gait, which gradually worsened subsequently. In addition to the psychiatric symptoms of schizophrenia, neurological examination revealed marked truncal ataxia and mild limb ataxia. Brain magnetic resonance imaging showed atrophy of the cerebellar vermis. Gene analysis confirmed the diagnosis of spinocerebellar ataxia type 6 (SCA 6). No family members showed similar neuropsychiatric symptoms except that the patient's father had been suffering from an unknown dementing disease. Occurrence of both schizophrenia and SCA 6 in the identical patient may be coincidental. However, growing evidence has shown that various mutations in the CACNA1A gene are associated with phenotypic variability, such as progressive ataxia, episodic ataxia, migraine, coma, epilepsy and mental retardation. Therefore, the schizophrenic symptoms, association of which with SCA 6 has previously reported in a few cases, may represent rare clinical features of the channelopathy associated with the mutation in the CACNA1A gene.
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PMID:[A case of spinocerebellar ataxia 6 accompanied with schizophrenia]. 1502 29

We report on a case of a 48-year-old woman presenting with maternally inherited diabetes mellitus and deafness (MIDD) syndrome. Molecular genetic analysis and clinical evaluation were conducted in the patient and her 4 children to investigate the interrelation between an MIDD-associated mitochondrial DNA (mtDNA) mutation and clinical manifestations. Various symptoms and markers of MIDD, including seizures, migraines, short stature, mental retardation, and stroke-like episodes, were reviewed. Diabetes mellitus (DM) was studied by oral glucose tolerance and glucagon stimulation tests. Hearing impairment was determined by standard hearing tests and a brainstem auditory evoked potential test. The A3243G and T3271C transitional mutations of mtDNA were investigated from muscle and/or leukocytes and hair follicles. Mitochondrial-related symptoms were not found in the children, although they all harbored a heteroplasmic A3243G transition of mtDNA, as detected in screened samples. For the patient, the proportion of mutant mtDNA was highest in muscle cells followed by hair follicles and then leukocytes. Moreover, the proportion of mutant mtDNA was also higher in hair follicles than in leukocytes for asymptomatic family members. This Taiwanese MIDD family was found to have the A3243G point mutation as revealed from molecular genetic studies of leukocytes, hair follicles, and muscle tissue. However, no correlation was found between the proportion of mutant mtDNA and clinical features of any family member.
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PMID:Maternally inherited diabetes and deafness (MIDD) syndrome: a clinical and molecular genetic study of a Taiwanese family. 1507 93

Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterised by attacks of hemiplegia and mental retardation. AHC has often been associated with migraine. Previously, we have excluded the involvement of the familial hemiplegic migraine (FHM) CACNA1A gene in four patients with AHC. A second gene for FHM was discovered recently: the ATP1A2 gene on chromosome 1q23, coding for the alpha 2 subunit of Na+,K+-ATPase. We performed a mutation analysis of the ATP1A2 gene in six patients, using direct sequencing, but found no mutations in any of the 23 exons. Other cerebral ion channel genes remain candidate genes for AHC.
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PMID:Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. 1553 63


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