Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias

• Published in: Journal of the peripheral nervous system Vol. 24; no. 2; pp. 224 - 229
• Main Authors: Triplett, James, Nicholson, Garth, Sue, Carolyn, Hornemann, Thorsten, Yiannikas, Con
• Format: Journal Article
• Language: English
• Published: Malden, USA Wiley Periodicals, Inc 01.06.2019; Wiley Subscription Services, Inc
• Subjects: Autonomic nervous system; Chromosome 14; Degeneration; Demyelination; Hereditary Sensory and Autonomic Neuropathies - genetics; Hereditary Sensory and Autonomic Neuropathies - physiopathology; hereditary sensory and autonomic neuropathy; Humans; Male; Middle Aged; Motor Neurons - physiology; Mutation; Nerve conduction; Neural Conduction - genetics; Neuropathy; Pedigree; Retina; Retinal Telangiectasis - genetics; Retinal Telangiectasis - physiopathology; Serine C-Palmitoyltransferase - genetics; sphingolipids; type II juxtafoveal retinal telangiectasias; sphingolipids; type II juxtafoveal retinal telangiectasias; hereditary sensory and autonomic neuropathy
• ISSN: 1085-9489; 1529-8027; 1529-8027
• DOI: 10.1111/jns.12315

Hereditary sensory and autonomic neuropathy type I (HSAN‐1) is an autosomal dominant sensory neuropathy occurring secondary to mutations in the SPTLC1 and SPTLC2 genes. We present two generations of a single family with Ser384Phe mutation in the SPTLC2 gene located on chromosome 14q24 characterized by a typical HSAN‐1c presentation, with additional findings upper motor neuron signs, early demyelinating features on nerve conduction studies, and type II juxtafoveal retinal telangiectasias also known as macular telangiectasias (MacTel II). Although HSAN1 is characterized as an axonal neuropathy, demyelinating features were identified in two subjects on serial nerve conduction studies comprising motor conduction block, temporal dispersion, and prolongation of F‐waves. MacTell II is a rare syndrome characterized by bilateral macular depigmentation and Müller cell loss. It has a presumed genetic basis, and these cases suggest that the accumulation of toxic sphingoplipids may lead to Müller cell degeneration, subsequent neuronal loss, depigmentation, and progressive central macular thinning.