Hereditary
Hereditary neuropathies due to hypersensitivity to pressure.
Epidemiology The true prevalence of hereditary pressure hypersensitivity neuropathy (HNPP) is unknown, as the disease is underdiagnosed, but is estimated to be between 1/50,000 and 1/20,000. Clinical description The disease usually occurs between the second
Tomacular neuropathy
Or hereditary neuropathy with hypersensitivity to pressure (HNPP) Etiology The disease is caused by a mutation in the PMP22 (17p12) gene and other genes. PMP22 encodes peripheral myelin protein 22 (PMP22) which is expressed predominantly
Ocular signs associated with peripheral neuropathy ABONNE
Corneal opacities: Found in Fabry disease, amyloid neuropathy and Tangier disease. Cataract: In Fabry disease and Refsum disease. Optic atrophy: Found in Refsum disease and Charcot-Marie-Tooth disease. Retinitis pigmentosa: Found in Refsum disease and Charcot-Marie-Tooth
Dejerine-Sottas syndrome
Hereditary sensorimotor disease type III or Dejerine-Sottas disease Onset in childhood, most often before the age of three. Causes muscular atrophy of the extremities which can spread towards the roots with sometimes children having to
Familial amyloid polyneuropathy
Etiology Linked to a genetic defect on chromosome 18, with alteration of transthyretin (protein). The disease is caused by a methionine for valine substitution at residue 30 of the mature TTR protein, which is encoded
Hereditary sensory neuropathies (HSN I and II)
Pathophysiology and clinical These two forms cause damage to spinal ganglion neurons. They cause sensitivity disorders without motor impairment. The pathology begins in childhood or before the age of 30. Form 1 is autosomal dominant
Dysautonomic hereditary sensory neuropathy
Dysautonomic hereditary sensory neuropathy, Type 1. HSAN1 Autosomal dominant disease whose genetic anomaly is known to differentiate 4 subtypes of this disease. Symptoms peak between 10 and 40 years of age. Patients have a loss
Tangier disease
Definition Very rare genetic neurometabolic disease characterized, biochemically, by an almost total absence of high density lipoproteins (HDL) in the plasma and, clinically, by enlargement of the liver, spleen, lymph nodes and tonsils, as well
Fabry disease
Etiology Linked to alpha-galactosidase A enzyme deficiency. X-linked with pathogenic variants of the GLA gene (Xq21.3-q22). This enzyme deficiency leads to an accumulation of globotriaosylceramide (Gb3) and its deacylated derivative (lyso-Gb3) in the lysosomes, which
Peroneal atrophy or Charcot-Marie-Tooth polyneuropathy (CMT)
This neuropathy, also called peroneal muscular atrophy, is an inherited transmission neuropathy. Mode of transmission, phenotype and severity are variable. there are 3 forms: The most frequent phenotype is a demyelinating neuropathy of autosomal dominant
Genetically determined neuropathies
Etiologies They are many : – Peroneal atrophy or Charcot-Marie-Tooth polyneuropathy (CMT). – Hereditary amyloid neuropathy. – Dejerine-Sottas disease. – Refsum disease. – Hereditary sensory neuropathies (HSN I and II). – Hereditary dysautonomic sensory neuropathies
Relapsed forms of neuropathies ABONNE
Etiology Hereditary neuropathies due to hypersensitivity to pressure. Chronic relapsing polyradiculoneuritis.