title: New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.
abstract: In 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non-progressive. Additional findings in 2 males were congenital "club-feet" and generalized seizures. The affected males were 13-62 years old at the time of our examination. Chromosome abnormalities including fragile X fra(X) could not be demonstrated in any case. Results of metabolic screenings were also normal. The clinical picture with X-linked recessive inheritance distinguishes this syndrome from previously described inherited hereditary ataxias.
authors.affiliation: Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: L
authors.initials: L
authors.lastname: Tranebjaerg
authors.forename: H
authors.initials: H
authors.lastname: Lou
authors.forename: J
authors.initials: J
authors.lastname: Andresen
mesh_terms: D000293:Adolescent; D000328:Adult; D001072:Apraxias / Q000150:complications / Q000235:genetics*; D001259:Ataxia / Q000150:complications / Q000235:genetics*; D002648:Child; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000523:psychology; D008297:Male; D009484:Neuropsychology; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014960:X Chromosome