Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor neurodegenerative
disorders that have the core clinical presentation of pyramidal syndrome which starts …

Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of
monogenic conditions that share common pathogenic mechanisms and include hereditary …

Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron
disease recognized worldwide. We investigated a total of 25 consanguineous families from …

Neurologic changes in visceral leishmaniasis (VL) are rarely reported. From January 1992 to
April 1993, 111 patients with VL were seen at Soba University Hospital in Khartoum, Sudan…

Background The etiology of intellectual disabilities is diverse and includes both genetic and
environmental factors. The genetic causes of intellectual disabilities range from …

Mutations in MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC),
a rare form of leukodystrophy characterized by macrocephaly, epilepsy, spasticity, and …

Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous
neurological entity that includes more than 80 disorders which share lower limb spasticity as a …

Background CCDC88C is a ubiquitously expressed protein with multiple functions,
including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic …

Background Intellectual disability is a form of neurodevelopmental disorders that begin in
childhood and is characterized by substantial intellectual difficulties as well as difficulties in …

Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare
autosomal-recessive disorder of the urea cycle, presents after the first year of age with …