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The nervous system and the eye
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
James A.R. Nicoll, William Stewart, Fiona Roberts
The hereditary motor and sensory neuropathies (HMSNs) are a heterogeneous group of disorders with a prevalence of about 1/2,500 characterized clinically by distal wasting, the lower limbs having an ‘inverted wine bottle’ appearance. Principal among this group is HMSN-1 (Charcot–Marie–Tooth disease), which is an autosomal dominant disorder, with about two-thirds of patients having a duplication of PMP-22 (17p11.2) which encodes a Schwann cell protein. Histologically, a characteristic feature of the pathology is demyelination, with thickened ‘onion bulbs’ reflecting repeated remyelination.
The Ankle and Foot
Published in Louis Solomon, David Warwick, Selvadurai Nayagam, Apley and Solomon's Concise System of Orthopaedics and Trauma, 2014
Louis Solomon, David Warwick, Selvadurai Nayagam
Neurological examination is important, to identify causal disorders such as hereditary motor and sensory neuropathies and spinal cord abnormalities (tethered cord syndrome, syringomyelia). Poliomyelitis is also a significant cause in some parts of the world.
Neurological Investigations
Published in John Greene, Ian Bone, Understanding Neurology a problem-orientated approach, 2007
In myasthenia, the presence of acetylcholine receptor antibodies is diagnostic, although antibody-negative myasthenia may occur, especially in more restricted forms such as ocular or bulbar myasthenia. Voltage gated calcium channel antibodies are detected in 90% of patients with Eaton–Lambert syndrome, which can superficially mimic myasthenia. In certain of the hereditary motor and sensory neuropathies (HMSN some types termed Charcot–Marie–Tooth disease), it has been possible to identify the genetic mutations. Of those HMSN with a known genetic basis, HMSN types 1 and 3 have been associated with mutations in one of several genes expressed in Schwann cells, which produce myelin for the peripheral nervous system.
Rab11-mediated recycling endosome role in nervous system development and neurodegenerative diseases
Published in International Journal of Neuroscience, 2021
Jiajia Zhang, Gang Su, Qionghui Wu, Jifei Liu, Ye Tian, Xiaoyan Liu, Juanping Zhou, Juan Gao, Wei Chen, Deyi Chen, Zhenchang Zhang
CMT4C associated with the peripheral nervous system (PNS) myelin damage is an autosomal recessive form of hereditary motor and sensory neuropathies. CMT4C is caused by mutations in the SH3TC2 gene, SH3TC2 gene as a new Rab11 effector regulates Schwann cell myelination [72].