Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration.
McNeil
D E
DE
Linehan
W M
WM
Glenn
G M
GM
D000328:Adult; D000483:Alleles; D000067528:Ataxins; D016543:Central Nervous System Neoplasms / Q000098:blood supply / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D015897:Comorbidity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins; D009849:Olivopontocerebellar Atrophies / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D019043:Vascular Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*
D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human