Charcot-Marie-Tooth Disease Type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
Neurofilaments are components of the neuronal cytoskeleton and are composed of three subunits: the neurofilament heavy chain (NFEH), the medium chain (NEFM), and the light chain (NEFL). They are crucial for the growth of axons, the maintenance of axon caliber and the transmission of electrical impulses along axons.[1] Abnormal accumulation of neurofilament occurs in pathological conditions such as neurofilament inclusion disease (NFID), giant axonal neuropathy (GAN), diabetic neuropathy, spinal muscular atrophy (SMA), spastic paraplegia, Alzheimer's disease (AD) and Parkinson's disease (PD).
Source: Neuromuscular Disorders - Category: Neurology Authors: Elena Ikenberg, Peter Reilich, Angela Abicht, Corina Heller, Benedikt Schoser, Maggie C. Walter Tags: Case report Source Type: research
More News: Alzheimer's | Austria Health | Brain | Charcot-Marie-Tooth Disease | Diabetes | Endocrinology | Genetics | Neurology | Parkinson's Disease | Spinal Muscular Atrophy