Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 19-year-old man with mild form of phenylketonuria. The diagnosis was first made when he was examined for the tremor at 19 years of age. He had not received the Guthrie's screening test for phenylketonuria in infancy. His development of speech and walking was almost normal. Action and positional tremor developed at two years of age, and psychomotor deterioration at five years. His intelligence was of borderline, and he entered the special class for the mentally retarded at elementary school and junior high school. His skin and iris were less pigmented than those of Japanese young adults, and his hair was rather reddish. He had mild action tremor. He showed mild mental retardation, and the WAIS was 46 in PIQ, 70 in VIQ and 53 in total IQ. T2-weighted MRI of the brain showed high signal of the deep white matter around the posterior conus of the lateral ventricles. EEG showed paroxysmal abnormalities. Serum aminogram disclosed a marked elevation of phenylalanine. Analyses of pteridine in the serum and urine disclosed a low ratio of neopterine/biopterine. An assay of the dehydropteridine reductase in erythrocytes was normal. These laboratory data indicated that his condition was caused by a deficiency of phenylalanine hydroxylase deficiency.
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PMID:[A case report of mild from of phenylketonuria]. 890 94

We examined an 18-year-old female and an 18-year-old male with mild mental retardation who suffered from the oscillatory form of sporadic essential myoclonus from an age of 3 years. Although the generalized oscillatory myoclonus resembled severe essential tremor, surface electromyography revealed small myoclonic jerks with frequencies of 6-8 Hz. As concomitant symptoms, the female case exhibited overanxious irritability from early childhood and generalized epileptic seizures occurred from the age of 4 years. In the male case, an obsessive-compulsive disorder and photosensitive convulsive seizures were persistently noted from early childhood. All their symptoms had been stable for at least the last 10 years. Thus, although non-progressive tremulous movements are rare in early childhood, sporadic essential myoclonus is causative. In contrast to hereditary essential myoclonus, sporadic essential myoclonus is considered to be more heterogeneous, especially in the various associated symptoms.
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PMID:Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. 933 74

Autosomal recessive hereditary spastic paraplegia (AR HSP) with thin corpus callosum (TCC) is a rare neurodegenerative disorder often caused by mutations in the gene encoding for spatacsin at the SPG11 locus on chromosome 15q. The disease is characterized by progressive spastic paraparesis and mental retardation which occur during the first two decades of life and frequently with peripheral neuropathy. Brain magnetic resonance imaging (MRI) reveals typical TCC with periventricular white matter changes. We describe two patients, of Turkish descent, from the same consanguineous family and affected with SPG11 in association with unusual early-onset parkinsonism. Parkinsonism occurred during the very early stages of SPG11 in both patients, being in one the inaugural symptom of the disease presented as a resting tremor with akinesia, rigidity and expressing an initial moderate levodopa-response that progressively weakened. The second patient presented a resting tremor with mild akinesia and no levodopa-response. Both patients were affected with progressive spastic paraparesis which had initially occurred at 15 and 12 years of age, respectively, in association with mild mental retardation and an axonal polyneuropathy. TCC with periventricular white matter changes (PWMC) was evident by MRI and (123)I-ioflupane SPECT was abnormal. Genetic analysis detected for both patients a new c.704_705delAT, p.H235RfsX12 homozygous mutation in SPG11. This report provides evidence that parkinsonism may initiate SPG11-linked HSP TCC and that SPG11 may cause juvenile parkinsonism.
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PMID:SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. 1922 11

We describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of late-onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene. Indeed, the patient carried a full FMR1 mutation. Unexpectedly, both alleles of the gene were almost completely methylated. Cytogenetic examination of the patient revealed in addition a large de novo deletion in band Xp22 on one of her X chromosomes. The deletion was fine mapped using oligonucleotide array CGH, and its breakpoints were localized using sequencing. The size of the deletion was about 17.4 Mb, and it contained more than 90 protein-coding genes. Microsatellite analysis indicated paternal origin of the aberrant chromosome. The large rearrangement was the most probable cause of the X-inactivation skewing, thus explaining the methylation of not only the expanded (maternal) but also the normal (paternal) FMR1 alleles. This pattern of skewed X-inactivation was confirmed using the analysis of methylation at the AR locus. The relatively mild phenotype of the patient resulted most likely from unmasking of the FMR1 defect. Although the deleted region contained many important genes, the phenotypic contribution of the rearranged X chromosome was probably limited by its almost complete inactivation. However, reduced dose of several genes escaping X-inactivation might also play a role in the phenotype of the patient.
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PMID:FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 2042 35