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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this paper we report the cases of two girls affected by a progressive encephalopathy. Both stories are similar. After a normal development in the first year of life, neurological regression occurred since the beginning of the second year. This progressive syndrome led within a few months to a loss of any verbal acquisition, loss of purposeful use of the hands, dementia, autism. Other neurological alterations occurred in the following years: piramidal signs at lower limbs, generalized and partial seizures, ataxia, gait apraxia. All laboratory findings were normal in both girls. The EEG was abnormal in both patients and the patterns were quite the same in following records of both girls. The disease occurred in our patients is quite certainly the same described by Rett for the first time in 1966.
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PMID:[Rett syndrome. Review of the literature and presentation of 2 clinical cases]. 408 13

Thirty-five patients, exclusively girls, from three countries had a uniform and striking progressive encephalopathy. After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. Within one-and-a-half years this deterioration led to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and acquired microcephaly. The destructive stage was followed by apparent stability lasting through decades. Additional insidious neurological abnormalities supervened, mainly spastic parapareses, vasomotor disturbances of the lower limbs, and epilepsy. Prior extensive laboratory investigations have not revealed the cause. The condition is similar to a virtually overlooked syndrome described by Rett in the German literature. The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses.
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PMID:A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. 663 58

Rett syndrome (RS) is a progressive neurological disorder of females, characterized by the early onset of autistic behavior, ataxia, and "handwringing" movements. The present magnetic resonance imaging study was undertaken with the purpose of investigating whether structural brain abnormalities of RS patients are similar to those recently reported in autism. The subject population consisted of eight patients and an equal number of age- and sex-matched controls. Area and shape measurements were taken at selected anatomical levels for the following structures: brain hemisphere, corpus callosum, midbrain, pons, lobules I-V and VI-VII of the cerebellum, and head of the caudate. Results revealed significant differences in area for the whole brain hemisphere (p < 0.05) and in both right and left caudate (p < 0.04). These morphological findings are different from those recently reported in autism and emphasize the involvement of the striatal system in RS.
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PMID:Quantitative magnetic resonance imaging in Rett syndrome. 758 Jan 76

Various developmental abnormalities can give rise to the clinical syndrome of autism, and some are due to chromosomal anomalies. One syndrome has been identified in which behavioural disorder is associated with the clinical features of epilepsy and ataxia, and with the chromosomal anomaly of an extra marker chromosome containing a duplication of 15q11-13. The authors report a boy with autism, epilepsy, ataxia and an interstitial duplication of 15q, in whom molecular analysis reveals duplication of the GABRA5 and GABRB3 genes on the maternally derived chromosome.
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PMID:Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. 805 Jun 26

Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat expansion mutations. Expansion mutations may also cause a number of other disorders, including several additional forms of spinocerebellar ataxia, bipolar affective disorder, schizophrenia, and autism. To obtain candiate genes for these disorders, cDNA libraries from adult and fetal human brain were screened at high stringency for clones containing CAG repeats. Nineteen cDNAs were isolated and mapped to chromosomes 1, 2, 4, 6, 7, 8, 9, 12, 16, 19, 20, and X. The clones contain between 4 and 17 consecutive CAG, CTG, TCG, or GCA triplets. Clone H44 encodes 40 consecutive glutamines, more than any other entry in the nonredundant GenBank protein database and well within the range that causes neuronal degeneration in several of the glutamine expansion diseases. Eight cDNAs encode 15 or more consecutive glutamine residues, suggesting that the gene products may function as transcription factors, with a potential role in the regulation of neurodevelopment or neuroplasticity. In particular, the conceptual translation of clone CTG3a contains 18 consecutive glutamines and is 45% identical to the C-terminal 306 residues of the mouse numb gene product. These genes are therefore candidates for diseases featuring anticipation, neurodegeneration, or abnormalities of neurodevelopment.
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PMID:cDNAs with long CAG trinucleotide repeats from human brain. 922 80

Rett syndrome (RS) is one of the most frequent causes of mental retardation in females. As there are no known biochemical, genetic, or morphological markers, diagnosis is based on clinical phenotype including severe dementia, autism, truncal ataxia/apraxia, loss of purposeful hand movements, breathing abnormalities, stereotypies, seizures, and extrapyramidal signs. Myoclonus, although reported in some series, has never been characterized. We studied 10 RS patients, age 3 to 20 years, and observed myoclonus in 9. Severity of myoclonus did not correlate with that of the other symptoms or with age. Multifocal, arrhythmic, and asynchronous jerks mainly involved distal limbs. Electromyographic bursts lasted 48 +/- 12 msec. Burst-locked electroencephalographic averaging generated a contralateral centroparietal premyoclonus transient preceding the burst by 34 +/- 7.2 msec. Motor evoked potentials showed normal latencies, indicating integrity of the corticospinal pathway. Somatosensory evoked potentials were enlarged. The C-reflex was hyperexcitable and markedly prolonged (62 +/- 4.3 msec), mainly due to increase in cortical relay time (28.4 +/- 4.5 msec). We conclude that RS patients show a distinctive pattern of cortical reflex myoclonus with prolonged intracortical delay of the long-loop reflex.
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PMID:Cortical reflex myoclonus in Rett syndrome. 954 28

Formerly thought to be a neurodegenerative disease, Rett syndrome (RS) is a neurodevelopmental arrest of the brain that almost exclusively affects females and occurs in a variety of racial and ethnic groups worldwide. RS begins in late infancy and is characterized by autistic and dementia-like behavior, ataxia, and purposeless hand movements. Its cause and mode of transmission are unknown in over 90% of cases; however, there is strong and convincing evidence that genetic factors play a major role. The reported incidence varies, but in the US, as many as one quarter to one third of female children in mental wards/institutions may be affected. RS has been mistaken for numerous other conditions, including autism, cerebral palsy, and mental retardation, but the clinical picture is unique: No other condition has a period of rapid deterioration followed by apparent stabilization or even improvement in autistic features, eye contact, seizure activity, and hand stereotypies. The diagnosis is supported by deceleration of head growth, evidence of neurologic regression with associated neurologic signs, and purposeless hand stereotypies, with a clinical history of developmental regression. The differential diagnosis often involves ruling out syndromes with similar signs of neurodevelopmental arrest--for example, meningitis or encephalitis; chromosomal disorders such as Angelman's syndrome and Prader-Willi syndrome; metabolic disorders such as ornithine carbamoyltransferase deficiency; disorders of organic acids and amino acids; neurovisceral storage diseases; mitochondrial cytopathy; and Batten disease, or infantile neuronal ceroid lipofuscinosis. Management encompasses a comprehensive medical, therapeutic, educational, and psychosocial approach, best provided through a team in collaboration with the community agencies that serve families and children with special needs.
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PMID:Understanding, Recognizing, and Treating Rett Syndrome. 974 85

Unstable (CAG)n trinucleotide repeat microsatellites are hypothesized to cause schizophrenia. The (CAG)n microsatellite of dominant spinal cerebellar ataxia type 1 (SCA1) is a candidate schizophrenia gene. Autism results from expansions of (CGG)n and (GAA)n trinucleotide repeat stretches at fragile X syndrome (FRAXA), and the recessive Friedreich's ataxia (FA). Dominant ataxia genes may cause schizophrenia and recessive ataxia genes may cause autism. Syndromes with autism show purine synthesis defects (PSDs) and/or pigmentation defects (PDs). Autism is caused by very lengthy expansions of (CAG)n, (CGG)n and (GAA)n repeats, while schizophrenia results from much smaller (CAG)n and (CGG)n repeat expansions.
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PMID:Expanded (CAG)n, (CGG)n and (GAA)n trinucleotide repeat microsatellites, and mutant purine synthesis and pigmentation genes cause schizophrenia and autism. 979

Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation in females, with an incidence of 1 in 10,000-15,000 (ref. 2). Patients with classic RTT appear to develop normally until 6-18 months of age, then gradually lose speech and purposeful hand use, and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. As RTT occurs almost exclusively in females, it has been proposed that RTT is caused by an X-linked dominant mutation with lethality in hemizygous males. Previous exclusion mapping studies using RTT families mapped the locus to Xq28 (refs 6,9,10,11). Using a systematic gene screening approach, we have identified mutations in the gene (MECP2 ) encoding X-linked methyl-CpG-binding protein 2 (MeCP2) as the cause of some cases of RTT. MeCP2 selectively binds CpG dinucleotides in the mammalian genome and mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A (refs 12,13). In 5 of 21 sporadic patients, we found 3 de novo missense mutations in the region encoding the highly conserved methyl-binding domain (MBD) as well as a de novo frameshift and a de novo nonsense mutation, both of which disrupt the transcription repression domain (TRD). In two affected half-sisters of a RTT family, we found segregation of an additional missense mutation not detected in their obligate carrier mother. This suggests that the mother is a germline mosaic for this mutation. Our study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
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PMID:Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 1050 98

Rhombencephalosynapsis (RS) is a rare cerebellar malformation. Its essential features are the absence of the incisura cerebelli posterior, fusion of the cerebellar hemispheres, the absence of the velum medullare anterius and nuclei fastigii, and fusion of the dentate nuclei, which are shifted towards the mid-line. Clinically, affected patients present with signs of cerebellar and motor disturbances. The present report describes a new patient affected by RS. The subject first presented at the age of 22 years because of a psychiatric symptomatology which was characterized by obsessive oral self-mutilation associated with an intellectual disability. Objective evaluation documented dysmorphic features, while neurological examination showed only a slight truncal ataxia. The subject's IQ was 74 on the Wechsler Scale (verbal IQ = 79, performance IQ = 74). Psychiatric evaluation with DSM-IV criteria documented an obsessive-compulsive personality disorder associated with emotional instability and oral self-mutilation. The typical picture of rhombencephalosynapsis was evident on magnetic resonance imaging. Both chromosomal analysis and routine biochemical investigations were normal. The relationship between oral self-injurious behaviour and cerebellar malformations is discussed with particular regard to the behavioural aspects of cerebellar congenital pathology in affective disorders and in autism.
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PMID:Oral self-mutilation in a patient with rhombencephalosynapsys. 1071 54


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