title: Comorbid genetic diseases, von Hippel-Lindau disease and spinocerebellar ataxia type 2, confounding the diagnosis of cerebellar dysfunction in an adolescent.
abstract: The authors report a 15-year-old female who presented with difficulties in ambulation as well as difficulties with balance and penmanship. She had a known genetic risk of von Hippel-Lindau (VHL; MIM 193300) disease, with a unique VHL mutation, but had no tumors of the brain or spine to explain her symptoms. Laboratory analysis of peripheral blood lymphocytes was targeted at genetic loci associated with ataxic disorders. Allelic expansion of the ataxin-2 gene was identified. Spinocerebellar ataxia type 2 (SCA2) was diagnosed as a comorbid genetic condition in this patient.
authors.affiliation: Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, NCI/NIH/EPS/Room 7108, 6120 Executive Boulevard, MSC 7236, Bethesda, MD 20892-7236, USA.
authors.forename: D E
authors.initials: DE
authors.lastname: McNeil
authors.forename: W M
authors.initials: WM
authors.lastname: Linehan
authors.forename: G M
authors.initials: GM
authors.lastname: Glenn
mesh_terms: D000293:Adolescent; D000067528:Ataxins; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D009419:Nerve Tissue Proteins; D011379:Prognosis; D011506:Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D018911:Trinucleotide Repeats; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins