Novel compound heterozygous mutation in gene cause Niemann-Pick disease type C with juvenile onset.

Niemann-Pick disease type C (NPC) is a progressive lysosomal storage disorder caused by mutations in the (in 95% of cases) or (in ~5% of cases) genes, inherited in an autosomal recessive manner. We report the case of a 38-year-old woman with learning disorder from her first year of schooling, and could notice slow progressed cognitive impairment, social withdrawal, apathy, handwriting alterations, deterioration of language skills and dysphagia. Brain magnetic resonance imaging showed severe cerebellar atrophy, hypoplasia of the corpus callosum, asymmetric lateral ventricular enlargement, and severe enlargement of frontal and parietal subarachnoid spaces.

Novel c.C2254T (p.Q752*) mutation in (SPG15) gene in a patient with hereditary spastic paraparesis.

Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive gene are considered as very rare causes. We describe a novel mutation in gene found in a patient with autosomal recessive spastic paraplegias. The use of a 'target-gene' approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Background: Intellectual disability (ID) is a common neurodevelopmental disorder affecting 1-3% of the general population. Mutations in more than 10% of all human genes are considered to be involved in this disorder, although the majority of these genes are still unknown.

Objectives: We investigated 19 small non-consanguineous families with two to five affected siblings in order to identify pathogenic gene variants in known, novel and potential ID candidate genes.