... 1p36.13 to 1p36.33. Patients bearing constitutional deletion of a smaller region, 1p36.3, present with a number of features, including mental retardation. The gene PLCH2, codifying for the phosphoinositide-specific phospholipase C (PI-PLC) η2, maps on the 1p36.32 region. PI-PLC η2, expressed in the brain...

... be associated, such as migraine attacks with or without aura, absence epilepsy and mental retardation. Methods: To describe the intrafamilial variability of clinical manifestations of 3 patients harboring a novel CACNA1A point mutation in exon 7 (nucleotide insertion c.1063dupG) typical of EA2 mutation. Results...

...Dirk Deleu; Sunita A. Bamanikar; David Muirhead; Andre Louon Three siblings from consanguineous parents, originating from Tanzania, presented with symptoms of complete or partial agenesis of the corpus callosum. Two males had in addition a sensorimotor neuropathy, moderate mental retardation...

... to in the content or advertisements. Fragile X X chromosome Mental retardation Familiarity X linkage Eur Neurol 1990;30:32-37 © 1990 S. Karger AG. Basel 0 0 14 -3 022/90/0301-0 0 3 2 Î2 .7 5 /0 Fragile-X Mental Retardation in a Large Five-Generation Family A Clinical and Cytogenetic Study E. Raimondia...

...Rauno A. Tuikka; Ritva K. Laaksonen; Hannu V.K. Somer Intellectual and cognitive function were studied in 35 patients with myotonic dystrophy (DM). All 5 patients with the congenital form showed moderate or mild mental retardation. The 30 adult-onset patients had normal intelligence and memory...

.... His father had suffered from Huntington’s disease for 10 years, and his paternal uncle and aunt, who died at the age of 52, were diagnosed as having this disease. Neurological examination revealed severe mental retardation and marked pyramidal signs. He has no signs or symptoms of involuntary movement...

..., instructions or products referred to in the content or advertisements. Sjögren-Larsson syndrome Ichthyosis Spastic tetraparesis Mental retardation Demyelination Neuroblastoma Eur. Neurol. 19: 166 170 (1980) Pathological Findings in One of Two Siblings with Sjogren-Larsson Syndrome1 Carlos Alberto...

... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Children Epilepsy Neurologic findings Mental retardation Computer tomography Eur. Neurol. 19: 180 184 (1980) Computer Tomography in Children...

...(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Electroencephalography Cranial computed tomography Hemiplegic cerebral palsy Mental retardation Epilepsy ...

...Ingrid Gamstorp A pair of sibs is reported with severe growth retardation since infancy, lack of subcutaneous fat, aged appearance, severe mental retardation with possibly a progressive dementia and evidence of peripheral polyneuropathy. The correct labelling of this disorder is discussed...

...Matti Iivanainen; Ella Kostiainen The electrophoretic evaluation of the cerebrospinal fluid (CSF) proteins was performed in the cutis verticis gyrata and mental retardation (CVG-MR) syndrome, as the assumed handicapped CSF circulation might result in an altered electrophoretic pattern. In seven...

...Nobutada Tachi; Naoki Kozuka; Kazuhiro Ohya; Shunzo Chiba; Kimio Sasaki We present here 5 patients with hereditary cerebellar ataxia with peripheral neuropathy and mental retardation as determined by clinical, pathological, and molecular studies. The most characteristic features of this disorder...