Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups
of neurological disorders, both clinically and genetically. The disease comprises pure and …

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous
inherited disorders characterized by impaired neuromuscular transmission. Mutations in the …

Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal
dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron …

We have identified a novel form of recessive ataxia that segregates in three children of a large
consanguineous Saudi Arabian family. The three patients presented with childhood onset …

Background Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described
neurometabolic disorder characterized by congenital microcephaly and severe global …

Objectives: To describe the epidemiology and clinical features of stroke in a prospective
and retrospective cohort of Saudi children and ascertain the causes, pathogenesis, and risk …

Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity
as part of a mixed neurodegenerative disorder. Several causative genes have been shown …

OBJECTIVE: To compare nerve conduction parameters in asymptomatic diabetic patients
and with no clinical signs of neuropathy and in control subjects. METHODS: Forty-eight …

OBJECTIVE: To assess the value of brainstem auditory evoked potentials and event related
evoked potential (3rd positive component of evoked related potentials with latency of 300 …

Neurological assessment of the neonate begins by gathering as much information as possible
on the antenatal and birth histories. The family and social histories are also of paramount …