Congenital Sensory Neuropathies

Axelrod, Felicia B.

doi:10.1001/archpedi.1984.02140480049016

Cited by 97 publications

(5 citation statements)

References 34 publications

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“…Sural nerve biopsy demonstrated severe reduction in small‐caliber myelinated fiber density but only modest reduction in unmyelinated axons. The authors did not mention either a skin biopsy or a histamine test, which provide important diagnostic criteria for the group of hereditary peripheral neuropathies 17. They detected a homozygous missense mutation in the TRKA gene, changing a tyrosine to a cysteine at codon 359.…”

Section: Discussionmentioning

confidence: 99%

No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Toscano

Simonati

Indo

et al. 2002

Annals of Neurology

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Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) and type V (HSAN-V) are autosomal recessive genetic disorders, both characterized by a lack of pain sensation. We report a girl with clinical and neurophysiological findings consistent with a diagnosis of HSAN-V. We sequenced her TRKA gene, encoding a receptor tyrosine kinase for nerve growth factor and responsible for HSAN-IV, but we could not detect any mutation. These data indicate that a gene (or genes) other than TRKA is probably responsible for HSAN-V in some patients.

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Section: Discussionmentioning

confidence: 99%

No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Toscano

Simonati

Indo

et al. 2002

Annals of Neurology

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“…HSAN III, autosomal-recessive familial dysautonomia, leads to pronounced autonomic dysregulation and loss of pain and temperature sensation in infancy. 2 The disease is caused by a mutation in the IKBKAP gene. …”

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confidence: 99%

Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study

Minde¹,

Toolanen

Andersson

et al. 2004

Muscle and Nerve

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We have studied a large Swedish family with a mutation in the nerve growth factor beta (NGFB) gene causing insensitivity to deep pain without anhidrosis (hereditary sensory and autonomic neuropathy, type V; HSAN V). Painfree joint destruction and fractures were common. Peripheral nerve conduction was normal, but temperature thresholds were increased. Sural nerve biopsies showed a moderate loss of A delta fibers and a severe reduction of C fibers. The three most severely affected cases were all born to consanguineous parents, and were homozygotes for the causal genetic mutation. Treatment of these patients is discussed.

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“…Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) (also known as hereditary sensory and autonomic neuropathy, or HSAN, type IV) is a rare autosomal recessive disorder associated with consanguinity (14,15). Specific features of CIPA are 1) profound loss of pain sensitivity, leading to injuries, self-mutilation, and osteomyelitis; 2) defects in thermoregulation, causing anhidrosis and episodic fever with hyperpyrexia; and 3) mental retardation (16).…”

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confidence: 99%

Novel Pathogenic Mechanisms of Congenital Insensitivity to Pain with Anhidrosis Genetic Disorder Unveiled by Functional Analysis of Neurotrophic Tyrosine Receptor Kinase Type 1/Nerve Growth Factor Receptor Mutations

Miranda

Virgilio

Selleri

et al. 2002

Journal of Biological Chemistry

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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disease characterized by absence of reaction to noxious stimuli and anhidrosis. The genetic bases of CIPA have remained long unknown. A few years ago, point mutations affecting both coding and noncoding regions of the neurotrophic tyrosine receptor kinase type 1 (NTRK1)/nerve growth factor receptor gene have been detected in CIPA patients, demonstrating the implication of the nerve growth factor/ NTRK1 pathway in the pathogenesis of the disease. We have previously shown that two CIPA mutations, the G571R and the R774P, inactivate the NTRK1 receptor by interfering with the autophosphorylation process. We have extended our functional analysis to seven additional NTRK1 mutations associated with CIPA recently reported by others. Through a combination of biochemical and biological assays, we have identified polymorphisms and pathogenic mutations. In addition to the identification of residues important for NTRK1 activity, our analysis suggests the existence of two novel pathogenic mechanisms in CIPA: one based on the NTRK1 receptor processing and the other acting through the reduction of the receptor activity.

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Congenital Sensory Neuropathies

Cited by 97 publications

References 34 publications

No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study

Novel Pathogenic Mechanisms of Congenital Insensitivity to Pain with Anhidrosis Genetic Disorder Unveiled by Functional Analysis of Neurotrophic Tyrosine Receptor Kinase Type 1/Nerve Growth Factor Receptor Mutations

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