Diagnosis The Condition In This 43-Year-Old Man

Figure 1: MRI midsagittal (left) and axial (right) FLAIR demonstrating cerebellar atrophy. Source: Karger|case reports in neurology Case presentation:  A 43-year-old male presented o the hospital with complaints of progressive fatigue, unbalanced ataxic gait due to a childhood leg injury, and mild obstructive sleep apnea syndrome (OSAS). Family history: Not significant Neurological examination: Saccadic intrusions during smooth pursuits with bi-directional nystagmus. Reflexes were normal. Absence of Peripheral neuropathy. Laboratory findings: No abnormalities found.

Magnetic resonance imaging (MRI): Refer to the cover image Six months later, the patient reported dizziness while standing up. Brisk reflexes with a left extensive plantar response were noted. The repeat MRI scan was unaltered. Exome sequencing: Two heterozygous mutations in the SPG-7 gene were detected. *This image…