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Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration

¹ Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
² Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

Correspondence to:
Dr G M Glenn, Division of Cancer Epidemiology and Genetics, NCI/NIH/EPS/Room 7108, 6120 Executive Boulevard, MSC 7236, Bethesda, MD 20892-7236, USA;
glenng@nih.gov]

Keywords: von Hippel-Lindau disease; spinocerebellar ataxia type 2; CNS dysfunction

Abbreviations: VHL, von Hippel-Lindau disease; SCA2, spinocerebellar ataxia type 2; OPCA, olivopontocerebellar atrophy; HIF, hypoxia inducible factor; VEGF, vascular endothelial growth factor

The first 150 words of the full text of this article appear below.

Von Hippel-Lindau disease (VHL, MIM 193300) is an autosomal dominant heritable neoplastic disorder resulting from any one of 163¹ or more non-polymorphic mutations² found in the VHL tumour suppressor gene on chromosome 3p25.³ Inheritance of a mutated VHL gene predisposes to development of specific types of tumours, including brain and spinal cord haemangioblastoma, renal clear cell carcinoma, phaeochromocytoma, retinal angioma, pancreatic neuroendocrine tumour/islet cell carcinoma, endolymphatic sac tumour, and epididymal and broad ligament papillary cystadenoma.^4–8

The spinocerebellar ataxias, also referred to as olivopontocerebellar atrophy, are a diverse group of neurodegenerative disorders associated with atrophy and dysfunction of the cerebellum and brain stem. Varying degrees of extracerebellar manifestations including neuropathy and oculomotor disorders, such as slow saccades and/or ophthalmoplegia, have been described.⁹

We present clinical and genetic findings for members of a large kindred with a history of both von Hippel-Lindau disease (VHL) and spinocerebellar ataxia type 2 (SCA2, MIM 183090). . . . [Full text of this article]