Hereditary spastic paraplegia type 26 with a novel mutation in B4GALNT1 gene and literature review of the clinical features

Hereditary spastic paraplegia (HSP) is a syndromic designation for a clinically and genetically heterogeneous group of inherited neurodegenerative or neurodevelopmental disorders in which the main neurological symptoms and signs are lower limb spasticity and weakness. Inheritance may be autosomal dominant, autosomal recessive, or rarely X linked. Autosomal recessive HSPs are more frequent in consanguineous populations. Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, characterized by the onset in childhood/adolescence of progressive spastic paraplegia associated mainly with cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. In the literature, a few cases have been reported with SPG26. Here, we report SPG26 cases of Turkish origin with a novel homozygous mutation in B4GALNT1gene, presented with progressive gait disturbance, and cognitive impairment. SPG26 should be included in the differential diagnosis of lower limb spasticity and weakness when additional ataxia, cognitive deficits, polyneuropathy, and extrapyramidal involvement.
Keywords: Hereditary spastic paraplegia,clinical features,genetics