Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia

Abstract

Late-onset spinal muscular atrophy associated with the VAPB gene is a slowly progressing, adult-onset, lower motor neuron disease with an autosomal dominant inheritance pattern. We present a male with progressive weakness beginning at age 44, predominantly in the proximal legs, fasciculations, and gait disturbance, with similar clinical syndrome in his mother. On physical examination, he presented weakness in 4 extremities, predominantly proximal, with atrophy and areflexia. The genetic study identified the c.166C > T mutation in the VAPB gene. The P56S mutation of the VAPB gene is associated with adult-onset spinal muscular atrophy and amyotrophic lateral sclerosis; It has been reported in different countries, although the prevalence is higher in Brazil, related to Portuguese migration. Clinically, the patients present with late-onset ALS or SMA. The disease usually onset in the fifth decade of life as progressive weakness, predominantly proximal in the lower extremities, without bulbar or respiratory involvement.

Keywords:

• VAPB gene
• motor neuron disease
• spinal muscular atrophy
• amyotrophic lateral sclerosis

Acknowledgments

To the patient for allowing us to publish his case; to the other members of the Neuromuscular Diseases Center at the Roosevelt Institute for the academic and healthcare support they provide daily in our work.

Disclosure statement

The authors do not declare conflicts of interest in relation to this case.