Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia

Fraiman et al. describe a case of a late-onset spastic ataxia, which raises important points regarding the often-challenging genetic diagnosis of this group of disorders. The individual demonstrated gait and upper limb ataxia, as well features consistent with spastic paraparesis in the lower limbs. Key diagnostic clues included a family history of fragile X syndrome in two nephews, in addition to characteristic MRI brain findings of T2/FLAIR hyperintensities in bilateral middle cerebellar peduncles (MCPs).
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research