PubMed · 4645811
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E Nicol. 1972. Breakthrough to communication.. https://pubmed.ncbi.nlm.nih.gov/4645811/
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Paroxysmal kinesigenic choreoathetosis (PKC) is presently clearly designated as a familial movement disorder with autosomal dominant inheritance. We identified a family of PKC, in which 6 out of 23 members were affected, and 4 of the affected members had a history of infantile convulsions. Thus, this family was also considered as a case of infantile convulsions with paroxysmal choreoathetosis (ICCA). Video-EEG monitoring of two affected members suggested that PKC is less likely to be a form of reflex epilepsy, despite the existence of a history of infantile convulsions. Linkage analysis on eight Japanese families, including this family, defined the locus of PKC within the pericentromeric region of chromosome 16. ICCA and a form of autosomal dominant benign familial infantile convulsions (BFIC) were both mapped to the same or nearby region for PKC on chromosome 16. Additionally and quite unexpectedly, the locus of wet/dry ear wax (cerumen) was found to be located in the same region. Lastly, it was pointed out that the priority of the first discovery of PKC in the world should go to a Japanese psychiatrist, Shuzo Kure (1865-1932), who published the first detailed and almost complete description of a male patient with PKC in a Japanese medical journal in 1892.
Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10-year-old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders.
Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessively inherited disease occurring due to mutations in the nephrin gene (NPHS1). Two main Finnish mutations exist: Fin-major and minor, which both cause a lack of nephrin and absence of the slit diaphragm between the podocytes. This leads to severe proteinuria, nephrotic syndrome and infections, and without dialysis or renal transplantation, death in infancy. Between 1984 and 2003, six (8.6%) of the 70 NPHS1 patients diagnosed at our institution had, in addition to their renal disease, similar neurological symptoms. All six showed a severe dyskinetic cerebral palsy-like syndrome with dystonic features, athetosis and a hearing defect. The neurological symptoms became apparent during their 1st year of life and were diagnosed before 11 months of age. MRI showed increased signal intensity in T2-weighted images in the globus pallidus area. No mitochondrial gene mutations explaining the neurological symptoms were found, nor did external neurological complications explain them when compared with 29 NPHS1 control patients. Four children died at an early age: two during dialysis and two shortly after renal transplantation. Two are still alive with a functioning graft. Both have severe motor defects, but are mentally active and social.