Family history and clefting as major criteria for CHARGE syndrome.

CHARGE syndrome is an autosomal dominant malformation syndrome associated with mutations in CHD7. The condition is typically sporadic with few familial cases reported. The diagnosis of CHARGE syndrome is based on a combination of major and minor criteria comprised of structural and functional abnormalities, most of which are part of the original CHARGE acronym, although additional anomalies have been added.

What is the risk of permanent disability from a multiple sclerosis relapse?

Objective: To determine how often patients with relapsing-remitting multiple sclerosis (MS) develop severe (Expanded Disability Status Scale [EDSS] > or =6.0) sustained (greater than 6 months) disability due to an acute relapse.

Methods: We analyzed our database of all patients with MS followed up at the Marshfield Multiple Sclerosis Center.

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.

Hereditary sensory neuropathy type 1 (HSN1) is a dominantly inherited degenerative disorder of the peripheral nerves. HSN1 is clinically and genetically heterogeneous. One form arises from mutations in the gene SPTLC1 encoding long-chain base 1 (LCB1), one of two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the initial step of sphingolipid synthesis.