Quiz Form

Question Date: 17/09/2023

Question: A 43-year-old woman presents with 5 years of a gradually progressive ataxic gait disorder and dysarthria. MRI of her brain shows atrophy of the cerebellum. She has also been diagnosed with retinal macular degeneration

Options:

• Friedreich ataxia
• Paraneoplastic cerebellar degeneration
• Spinocerebellar ataxia type 7
• Vitamin E deficiency

Correct Answer: Spinocerebellar ataxia type 7

Explaination: Spinocerebellar ataxias (SCAs) present with gradually progressive ataxia and dysarthria. There are over 30 SCA mutations. Spinocerebellar ataxia type 7 is associated with retinal macular degeneration

Reference: Pandolfo M, Manto M. Cerebellar and afferent ataxias. Continuum (Minneap Minn). 2013 Oct19(5 Movement Disorders)1312-43. doi 10.121201.CON.0000436158.39285.22. PMID 24092292.