CONTEXT Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies) are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE ...

Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and aut...

Hereditary sensory and autonomic neuropathies (HSANs) represent a group of heritable peripheral nerve disorders usually taking a severe clinical course. HSAN-affected patients manifest with deep, poorly-healing ulcerations of the feet and hands. To date no definitive cure for HSANs has been developed and the molecular pathology of these disorders is complex. The aim of this review is therefore ...

Hereditary Sensory and Autonomic Neuropathies comprise a set of 5 rare neurologic conditions, little known to radiologists as the neurologic and skin abnormalities precede the radiographic changes by months or even years. We report a Caucasian patient with a clinical history of HSAN, most consistent with subtype 1, whose progressive, destructive bone changes of the foot were not only controlled...

Autonomic neuropathies may occur primarily or secondarily to various underlying diseases. Primary autonomic neuropathies are divided into pure autonomic neuropathy, autonomic neuropathy with sensory impairment, and autonomic neuropathy with sensory and motor impairment based on the concomitance or absence of sensory or motor dysfunctions. Autoimmune autonomic ganglionopathy refers to a pure aut...

OBJECTIVE To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation. METHODS We screened 107 patients with HSAN who were negative for other genetic causes for mutations in SPTLC2. The biochemical properties of a new mutatio...

Hereditary sensory and autonomic neuropathy (HSAN) type 1 is a rare hereditary neurological disorder. Two brothers aged 17 and 14 years had HSAN type 1 as both had big ulcers on feet, mutilation, dissociated anaesthesia, absent ankle jerks and normal hands. Probably these are first cases of HSAN type 1 in Indian literature.

hereditary motor sensory neuropathies (hsmn/cmt) is the most common form of inherited polyneuropathy and is typically associated with an insidious onset of muscle wasting, distal predominant motor and sensory loss. hsmn/cmt is usually presenting with genetic heterogeneity, leading to diagnostic considerations that are dramatically developing for this disease. clinical presentations, gene mutati...

Inherited neuropathies, collectively known as Charcot-Marie-Tooth disease (CMT), are a group of genetically and phenotypically heterogeneous peripheral neuropathies associated with mutations or copy number variations in over 80 distinct genes. 1 Named after the three neurologists who first described the condition in 1886, CMT is the most common inherited neuromuscular disease. 2 CMT is a motor ...

T he recent barrage of linkage assignments and gene discoveries has confirmed the clinical and genetic heterogeneity of ataxic diseases. They all share the prototypic feature of difficulty in walking though many additionally present dysarthria, spasticity, retinopathy, and other neurological symptoms. Broad subgroups of ataxias and related diseases exist including spinocerebellar and spastic at...