Two patients with hereditary spastic paraplegia 15: a rare and complex disease with cerebellar signs

8th International Symposium on Paediatric movement disorders, Barcelona, İspanya, 8 - 10 Şubat 2024, (Yayınlanmadı)

Introduction

Spastic paraplegia 15 (SPG15) is a form of early-onset complex hereditary spastic

paraplegia. The main clinical signs are spasticity, pyramidal signs, cognitive

impairment, and cerebellar dysfunction. Findings suggestive of SPG15 on brain MRI

include thinning of the corpus callosum, signal abnormalities of the periventricular

white matter, and cerebral and/or cerebellar atrophy. To date, about 75 individuals

have been reported.

Methods

Spastic paraplegia 15 is inherited in an autosomal recessive manner. Mutations in

the ZFYVE26 gene which encodes a protein with a FYVE zinc finger binding domain

result in SPG15. Here, two probands from unrelated families with ZFYVE26 gene

mutations are presented.

Results

Both patients are 17-year-old girls whose first complaints of gait instability began

around age 13. Gait abnormality consisted of tiptoe walking, later accompanied by

ataxia. They developed progressive dysarthria, learning difficulty and

musculoskeletal problems such as scoliosis. One patient had moderate dysphagia,

urinary urgency and limb dystonia.

Conclusions

Spastic paraplegia 15 is characterized by childhood or adolescent onset progressive

spasticity complicated with cerebellar signs. Patients have multiple system

manifestations and may develop extrapyramidal movement disorders such as

dystonia.