Two Brothers with a Variant of Hereditary Sensory Neuropathy

Pavone, Lorenzo; Huttenlocher, Peter R.; Siciliano, L; Micali, Giuseppe; Rizzo, Roberto; Anastasi, M.; Maimone, Davide; Woolmann, R

doi:10.1055/s-2008-1071319

Cited by 15 publications

(10 citation statements)

References 5 publications

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“…The diagnosis is generally established during early childhood when the family refers to a physican with such symptoms as loss of pain reception and trauma. The disease has no specific treatment, nor is its prognosis good ( Amir et al ., 1985 ; Bye et al ., 1990 ; Pavone et al ., 1992 ).…”

Section: Discussionmentioning

confidence: 99%

“…Pavone et al (1992) reported cases in which sweating functions were normal but which were described as type 4.…”

Section: Discussionmentioning

confidence: 99%

“…HSAN type 5: There is congenital loss of sense of pain, which affects the extremities. In contrast, muscular rigidity, deep tendon reflexes, and senso of mechanoreceptor and cutaneous neural junctional action potential are normal ( Amir, Jenke & Shapiro, 1985; Justice, 1985; Bye et al ., 1990 ; Hadzis et al ., 1992 ; Pavone et al ., 1992 ; Cardoso & Jancowich, 1993; Libertarb et al ., 1993 ).…”

Section: Introductionmentioning

confidence: 99%

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Hereditary sensory and autonomic neuropathy: review and a case report with dental implications

Erdem

Özcan

İlgüy

et al. 2000

J of Oral Rehabilitation

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Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome which is seen in early childhood. Five different types are described. Absence of pain and self-mutilation are characteristic findings of this syndrome. Teeth in the oral cavity can cause damage to the oral tissues and tongue. When it is diagnosed, there should be co-operation between dentist and neurologist. Using an oral shield prevents the biting and, thus, traumatization of the tissues can be prevented. A case report which is diagnosed as HSAN type 4 is presented and information submitted about its treatment.

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Section: Discussionmentioning

confidence: 99%

“…Pavone et al (1992) reported cases in which sweating functions were normal but which were described as type 4.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Hereditary sensory and autonomic neuropathy: review and a case report with dental implications

Erdem

Özcan

İlgüy

et al. 2000

J of Oral Rehabilitation

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“…In this study, we report the clinical course of three sibs with CIPA with one case being followed up over 25 years. In two patients, symptoms at diagnosis were first described in 1992 [10]. They showed the pertinent clinical findings of CIPA ( Table 1); during the follow-up there were no signs of increasing neurological morbidity and the acquired abilities were stable while self-help abilities had been improving.…”

Section: Discussionmentioning

confidence: 88%

Congenital Insensitivity to Pain with Anhidrosis (NTRK1 Mutation) and Early Onset Renal Disease: Clinical Report on Three Sibs with a 25-Year Follow-Up in One of Them

Barone

Lempereur²,

Anastasi³

et al. 2005

Neuropediatrics

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Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene which encodes the receptor for nerve growth factor (NGF). We report the clinical course in three sibs with CIPA and proven NTRK1 gene mutations with a follow-up over a 25-year period in one of them. They had the characteristic clinical features of an abnormally high pain threshold, and mental retardation; in addition their clinical course was marked by the occurrence of early onset renal disease with recurrent microhematuria and proteinuria and frequent observations of increased serum creatinine and blood urea levels. Light microscopy study of a renal biopsy performed in one of them at age of 20 months showed focal glomerulosclerosis, interstitial fibrosis and tubular atrophy. This patient and his younger brother died because of renal failure at the age of 25 years and 14 years, respectively. The sister still alive showed renal impairment and deep venous thrombosis associated with lupus anticoagulant activity, decrease of circulating autoreactive CD5 (+) B lymphocytes and increased urinary levels of IgG and kappa and lambda light chains, suggesting a possible defect in regulation of B-lymphocyte function. In the light of the NGF-related molecular defect, the extraneurological tissue involvement in CIPA might in part reflect dysregulation of immune mechanisms which possibly brings about a chronic inflammatory response. This, in turn, could result in renal disease which should be mentioned among the life-threatening complications associated with this disorder.

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“…The patient was a 22-year-old man, the first child of healthy consanguineous parents (first cousins), who was previously reported as two brothers with a variant of hereditary sensory neuropathy [Pavone et al, 1992]. His clinical phenotype was described as a variant form of CIPA because a sural nerve biopsy showed neuropathological findings consistent with this disorder but with normal sweating function and absence of recurrent fever.…”

Section: Introductionmentioning

confidence: 97%

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of theTRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutantTRKA andPKLR genes in a family with CIPA and pyruvate kinase deficiency

et al. 2001

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Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on chromosome 1q21-q22 encodes the receptor tyrosine kinase for nerve growth factor. We reported that TRKA is the gene responsible for CIPA and we developed a comprehensive strategy to screen for TRKA mutations and polymorphisms, as based on the gene's structure and organization. Here we report eight novel mutations detected as either a homozygous or heterozygous state in nine CIPA families from five countries. Mendelian inheritance of the mutations was confirmed in seven families for which samples from either parent were available. However, non-mendelian inheritance seems likely for the family when only samples from the mother and siblings, (but not from the father) were available. A paternal uniparental disomy for chromosome 1 is likely to be the cause of reduction to homozygosity of the TRKA gene mutation in this family. Interestingly, a Hispanic patient from the USA has two autosomal genetic disorders, CIPA and pyruvate kinase deficiency, whose genetic loci are both mapped to a closely linked chromosomal region. A splice mutation and a missense mutation were detected in the TRKA and PKLR genes from the homozygous proband, respectively. Thus, concomitant occurrence of two disorders is ascribed to a combination of two separate mutant genes, not a contiguous gene syndrome. This finding suggests a mechanism responsible for two autosomal genetic disorders in one patient. All these data further support findings that TRKA defects can cause CIPA in various ethnic groups. This will aid in diagnosis and genetic counseling of this painless but severe genetic disorder.

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Two Brothers with a Variant of Hereditary Sensory Neuropathy

Cited by 15 publications

References 5 publications

Hereditary sensory and autonomic neuropathy: review and a case report with dental implications

Hereditary sensory and autonomic neuropathy: review and a case report with dental implications

Congenital Insensitivity to Pain with Anhidrosis (NTRK1 Mutation) and Early Onset Renal Disease: Clinical Report on Three Sibs with a 25-Year Follow-Up in One of Them

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of theTRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutantTRKA andPKLR genes in a family with CIPA and pyruvate kinase deficiency

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