Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive condition unlinked to mutations in SMN1.

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.

Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterised by loss of motor function and muscle atrophy due to anterior horn cell degeneration. The most common variant is chromosome 5-linked proximal SMA, ranging in severity from congenital onset and infantile death to onset in adult life. Genetically separate variants with different distribution of weakness and/or additional features such as central nervous system involvement have been described.

Mental retardation with rare fragile site expressed at 2q11.

Several rare autosomal folate sensitive fragile sites were reported in individuals with mental retardation, neurological abnormalities, and multiple congenital malformations. Only three of them: fra(11)(q22.3), fra(X)(q27.

Parietal lipoma associated with cortical dysplasia and abnormal vasculature: case report and review of the literature.

We present the case of an unusually located intracranial lipoma in a 17-year-old patient with partial epilepsy who was being controlled with medication. The lipoma was located deep in the left sylvian fissure, in the inferior parietal lobule, associated with cortical dysplasia of the surrounding supramarginal gyrus. Abnormal vasculature was detected adjacent to and within the adipose mass.

Arylsulfatase A pseudodeficiency incidence in Turkey.

Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy.