An 81-year-old male presented to the neurogenetics clinic for evaluation of progressive gait dysfunction that began in his 30s and progressed to full-time wheelchair dependence at age 77. He had no family members with similar symptoms. He underwent genetic testing for spinocerebellar ataxias type 1, 2, 3, 6, and 7 at age 56 that was unrevealing. Exam findings included saccadic intrusions, mild to moderate dysarthria, and moderate asymmetric lower extremity spasticity. Brain MRI showed cerebellar atrophy since at least age 65, with more recent imaging showing thinning of the corpus callosum. The patient’s wife had noticed some cognitive decline. A multi-gene panel testing for 78 known HSP-associated genes was sent, and revealed homozygosity for SPG7 (c.1529C>T, p.Ala150Val), consistent with diagnosis of autosomal recessive HSP7.

Review of seven additional patients with HSP7 reveals an average delay of 15.34 years between symptom onset and molecular diagnosis. Other common findings included ataxia, cerebellar atrophy, and later-onset of cognitive impairment. Progression to the use of assistive gait devices occurred over decades.