This report describes neuropathy, hereditary sensory, type IIC (HSN2C), which is a subtype of neuropathy, hereditary sensory and autonomic; this disease exhibits autosomal recessive inheritance. The human gene implicated in this disease is the kinesin gene KIF1A, which encodes an anterograde motor protein that transports membranous organelles and synaptic vesicle precursors along axonal microtubules. See the report for 'synaptic dysfunction, KIF1-related' (FBhh0000875) for information on experimental results using Drosophila models of this and related diseases.
[updated Aug. 2018 by FlyBase; FBrf0222196]
Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons (Auer-Grumbach, 2013; pubmed:23931820).
Hereditary sensory and autonomic neuropathies (HSANs) occur much less frequently than do the primary hereditary motor sensory neuropathies (HMSNs) (http://www.uptodate.com/contents/hereditary-sensory-and-autonomic-neuropathies).
The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN), are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction, typically characterized by characterized by insensitivity to pain and resulting in injury to the fingers, tongue, lips, and other distal appendages. [from MIM:162400, MIM:616488; 2017.07.10]
[NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C](https://omim.org/entry/614213)
[KINESIN FAMILY MEMBER 1A; KIF1A](https://omim.org/entry/601255)
HSAN2 is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. [Gene Reviews, Hereditary Sensory and Autonomic Neuropathy Type II; 2018.08.21]
HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011; pubmed:21820098). [from MIM:614213; 2018.08.21]
Hereditary sensory neuropathy type IIC (HSN2C) is caused by homozygous or compound heterozygous mutation in the KIF1A gene. [from MIM:614213; 2018.08.21]
KIF1A encodes a member of the kinesin family; it functions as an anterograde motor protein that transports membranous organelles and synaptic vesicle precursors along axonal microtubules. [Gene Cards, KIF1A; 2018.08.22]