A Middle-aged Man With Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis

Nathan H Kung; Gregory P Van Stavern; Robert C Bucelli

doi:10.1001/jamaneurol.2017.0055

A Middle-aged Man With Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis

JAMA Neurol. 2017 Jun 1;74(6):733-736. doi: 10.1001/jamaneurol.2017.0055.

Authors

Nathan H Kung¹, Gregory P Van Stavern², Robert C Bucelli³

Affiliations

¹ Department of Ophthalmology, Washington University in St Louis, St Louis, Missouri.
² Department of Ophthalmology, Washington University in St Louis, St Louis, Missouri2Department of Neurology, Washington University in St Louis, St Louis, Missouri.
³ Department of Neurology, Washington University in St Louis, St Louis, Missouri.

PMID: 28437518
DOI: 10.1001/jamaneurol.2017.0055

Abstract

A 50-year old man presented for evaluation of progressive gait ataxia with a superimposed spastic paraparesis. During his clinic visit, he was also observed to have slow and limited eye movements. In this article, we discuss the clinical approach to this triad of symptoms and guide the reader to discover the patient's ultimate genetic diagnosis.

Publication types

Case Reports
Research Support, N.I.H., Extramural

MeSH terms

ATPases Associated with Diverse Cellular Activities
Ataxia / diagnosis*
Ataxia / genetics
Humans
Male
Metalloendopeptidases / genetics*
Middle Aged
Ophthalmoplegia / diagnosis*
Ophthalmoplegia / genetics
Paraparesis, Spastic / diagnosis*
Paraparesis, Spastic / genetics
Syndrome

Substances

Metalloendopeptidases
SPG7 protein, human
ATPases Associated with Diverse Cellular Activities