Gradually Progressive Spastic Ataxia in a Young Man

Abstract

A 26-year-old right-handed man presented with progressive gait imbalance over the last 6 years. He was in his usual state of health until his junior year of college. He noticed having trouble with his balance while playing intramural sports. When he was a senior in college, he started noticing intermittent difficulty with his balance while standing or walking, especially when walking a straight line. He felt jerky and had intermittent shaking of his legs. He also complained of worsening instability in the dark. He had numerous falls over the last 1 year. Over the months prior to presentation, he started to notice tremors and mild incoordination.Tremors were worse at the end of tasks, especially while eating or drinking. He also complained of mild slurring of his speech. He denied any weakness, numbness, tingling, drooping of the eyelids, double vision, bowel or bladder incontinence, and trouble swallowing.His medical history was otherwise unremarkable for any known contributing factors. He reported no travel history, history of developmental delay, or toxin exposure. He was taking sertraline, multivitamins, and coenzyme Q10. He drank approximately 15 to 20 beers per week and endorsed binge drinking during college years, but he denied tobacco or other illicit drug use. His maternal side of the family was of Irish descent and paternal side, French-Canadian descent. There was no consanguinity between his parents and no known history of neurological disease in his family, and he had 3 siblings who were asymptomatic.His general and mental status examinations were normal. Cranial nerves were normal, other than mild dysarthria. Motor examination showed normal tone, bulk, and strength. He was hyperreflexic in his arms and legs, with bilateral Hoffman sign and clonus at the ankles. Plantar reflex and sensory examination were normal. He had kinetic tremors with end point worsening. Gait examination was normal. Mild dystonic posturing of the right upper extremity was noticed while walking.

Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease

“…To the Editor We read with interest the recently published clinicopathological case by Dubey et al describing a patient with slowly progressive cerebellar ataxia and myelopathy. Recognizing the concomitant occurrence of cerebellar ataxia and spasticity provides an important diagnostic clue for a relatively small group of rare disorders, provided that brainstem vascular malformations, infections, metabolic changes, neoplastic causes, or demyelinating disorders have been excluded.…”

Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease—Reply

“…Clinical features, such as proximal weakness leading to waddling gait, ophthalmoplegia, and cognitive impairment associated with SPG7 mutation, were not present in our case. Additionally, many SPG7 cases are associated with moderate to severe cerebellar atrophy on magnetic resonance imaging, which was not present in the case discussed …”

“…Crafting a differential diagnosis is essential to ensure that the etiology of a patient’s presentation is not overlooked, but the discussion of an exhaustive differential can at times be prohibitive . Ramirez-Zamora and Okun pointed out 2 such conditions, SPG7 and Alexander disease, which can present as progressive spastic ataxia, but certain clinical and imaging characteristics make them less likely.…”