In the 1980s, Botez pioneered studies on the effects of lesions to the cerebellum on cognition, including patients with spinocerebellar ataxia, Friedreich's ataxia, and mice with spontaneous mutations causing cerebellar damage, such as GRID2-Lc Lurcher. (wikipedia.org)
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. (jefferson.edu)
Epilepsy1
In the 1970s, Botez' main research subject was the effects of folic acid and thiamine on the central nervous system, relevant for restless legs syndrome, epilepsy, polyneuropathy, and chronic fatigue syndrome. (wikipedia.org)
Neurological1
Folate-responsive neurological and mental disorders: report of 16 cases. (wikipedia.org)
Genetic1
Photographed in Sylet, East Pakistan, this female patient resented with numerous cutaneous nodules on her back having been afflicted with the genetic disorder known as neurofibromatosis, or the eponym, Von Recklinghausen's disease. (cdc.gov)
Proteins1
Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (TAU PROTEINS) in neurons and glial cells in the brain. (bvsalud.org)
Cases1
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). (nih.gov)
Diseases2
Symptomatic dystonias may be (a) secondary to drugs or other environmental factors, (b) part of a 'dystonia plus' syndrome or (c) part of several heredodegenerative diseases. (intermedicina.com)
Electronic health record documentation of International Statistical Classification of Diseases and Related Health Problems, Tenth Revision diagnostic codes corresponding to cardiometabolic disorders. (bvsalud.org)
Cognitive2
The aim of this study was to assess cognitive function in patients with spinocerebellar ataxia type 6 (SCA6), an autosomal-dominantly inherited disease leading to a progressive cerebellar syndrome. (indexindex.com)
Cognitive function was studied in 12 patients with genetically confirmed SCA6 (mean duration of disease: 9.2 +/- 11.6 years) and 12 age- and IQ-matched controls using a test battery comprising tests for IQ, attention, verbal and visuospatial memory, as well as executive function. (indexindex.com)
Sensory1
However, genetic factors, trauma, the sensory system, and impaired basal ganglia function may all play a role in the development of this disease. (intermedicina.com)
Dementia3
Medication-induced dystonias in nine patients with dementia. (intermedicina.com)
The authors report 9 cases of dystonic reactions in patients with dementia following the initiation of antipsychotic medication. (intermedicina.com)
The cases are important in documenting that drug-induced dystonias do occur in patients with dementia, that risperidone appears to have contributed to dystonia among elderly patients, and that the categorization of dystonic reactions needs further clarification. (intermedicina.com)
Polyneuropathy1
In the 1970s, Botez' main research subject was the effects of folic acid and thiamine on the central nervous system, relevant for restless legs syndrome, epilepsy, polyneuropathy, and chronic fatigue syndrome. (wikipedia.org)
Movement disorders4
It is the dorsal striatum, however, which is most significant in motor activity and commonly involved in hyperkinetic and hypokinetic movement disorders. (medscape.com)
Movement disorders rarely occur during reproductive years, therefore, clinicians are not very familiar with chorea gravidarum (CG). (medscape.com)
Several of the paroxysmal movement disorders may manifest with dystonia, but these are usually considered separately, as I have done in this review. (intermedicina.com)
Movement disorders: dystonias which are apparently psychosomatic. (intermedicina.com)
Homozygous2
The patients were homozygous for 1399 G/A or 2243 G/C (giving the amino acid changes A467T and W748S, respectively) or compound heterozygotes for these two mutations. (nih.gov)
However, major differences in survival were seen depending on genotype, with compound heterozygotes having a significantly shorter survival time than patients homozygous either for the A467T or W748S (P = 0.006). (nih.gov)
Spinocerebellar1
In the 1980s, Botez pioneered studies on the effects of lesions to the cerebellum on cognition, including patients with spinocerebellar ataxia, Friedreich's ataxia, and mice with spontaneous mutations causing cerebellar damage, such as GRID2-Lc Lurcher. (wikipedia.org)
Cystic3
Robinow syndrome: report of two patients with cystic kidney disease. (childrensmercy.org)
It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. (ouhsc.edu)
nov., derived from human clinical materials and recovered from cystic fibrosis and other patient types in Canada, and emendation of Pseudoxanthomonas spadix Young et al. (ouhsc.edu)
Disease2
Therefore, CG is regarded as a syndrome rather than a specific disease entity. (medscape.com)
This image depicts a portrait of a man afflicted with the genetic disorder known as neurofibromatosis, or the eponym, Von Recklinghausen's disease. (cdc.gov)
Clinical2
In neuropediatric clinical practice, disorders of movement include a wide diversity of conditions, amongst which the dystonias are uncommon in our practice, although they have to be considered amongst the possible diagnoses in some cases. (intermedicina.com)
Some clinical pictures of genuine torsion disorders may be confused with hysterical conversion disorders, somatizations or Munchausen's syndrome. (intermedicina.com)
Serum1
Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels. (nih.gov)
Progressive1
cerebral atrophy was stable in four patients and progressive in two. (nih.gov)
Years1
Aicardi-Goutières syndrome: neuroradiological findings after nine years of follow-up. (nih.gov)
Body1
This disorder may affect a single body part or may be more generalized, but the pathophysiology remains unclear. (intermedicina.com)
Year2
Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. (nih.gov)
In a diagnostic video session we show the case of a seven year old boy who initially presented with a dystonic disorder. (intermedicina.com)