Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family

Algahtani, Hussein; Naseer, Muhammad Imran; Abdulrahman, Shireen Abubakr; Boker, Faisal; Shirah, Bader

doi:10.1016/j.jns.2016.09.016

Cited by 12 publications

(7 citation statements)

References 8 publications

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“…Currently, HSAN can be categorized into 5 main subtypes based on clinical characteristics, mode of inheritance, electrophysiological features, metabolic defects, and specific genetic markers [17]. It is known that HSAN IV is a rare autosomal disorder with estimated incidence 1 in 25,000 [18,19]. Our 5 patients with diagnosis of HSAN can be subtyped into HSAN IV by clinical presentation.…”

Section: Discussionmentioning

confidence: 99%

Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype

et al. 2019

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Case series reports on clinical features of pediatric hereditary neuropathy in Thailand is scarce. Subtype and clinical presentation in childhood-onset CMT differ from adult-onset. The aim of this study is to investigate the CMT phenotype in Thai children. We retrospectively reviewed children diagnosed with CMT who followed up with Pediatric Neurology, Siriraj Hospital from January 1999 to June 2016. CMT subtypes determined by clinical presentation and neurophysiologic studies. Mutation analysis of PMP22 genes was performed in all demyelinating cases. The disease burden was assessed by CMT Neuropathy Score version 2 (CMTNSv2), CMT Examination Score (CMTES) and CMT Pediatric Scale (CMTPedS). 30 patients from 29 families with Hereditary Neuropathies, 25 diagnosed with CMT and 5 with HSAN. 8-year-old was the average age at first medical visit with disease-related problems. Twenty (67%) were male. Twenty-three were sporadic (77%). 16.7% was autosomal dominant and 6.7% was autosomal recessive. Clinical presentations in CMT children were walking difficulty and foot deformities. Nine (36%) CMT patients had demyelinating and sixteen (64%) had axonal. Forty percent had a history of delayed walking after 15-month-old. Foot deformities presented in all CMT patients, and twelve had foot surgery. 2 axonal CMT patients were wheelchair-dependence. Mean (SD) CMTNSv2, CMTES and CMTPedS were 15.44(9), 11.05(7) and 34(4) respectively. Our findings suggest Thai CMT children are predominantly axonal type. Patients with low socioeconomic status and mild symptoms may not seek healthcare. International collaboration in genetic testing is crucial in diagnosis and initiation of clinical trials in future.

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Section: Discussionmentioning

confidence: 99%

Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype

et al. 2019

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“…It is important to educate the Saudi population about this fact to hopefully reduce the occurrence of rare and devastating diseases. We have previously reported several novel and rare mutations causing a wide variety of genetic neurological diseases in the Saudi community (16)(17)(18)(19)(20)(21)(22)(23)(24). This paper may be considered as an urgent call for action to address the consanguinity issue in Saudi Arabia.…”

Section: Discussionmentioning

confidence: 91%

A novel mutation in <i>CACNA1A</i> gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine

Algahtani

Shirah

Algahtani

et al. 2019

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“…Premarital or preimplantation genetic screening allows a genetic diagnosis early on and can help couples who carry the same disease-causing variants to make an informed decision regarding their marriage and the consequences of their decision. The current authors have previously reported a wide variety of novel and rare genetic mutations causing a broad spectrum of diseases and clinical manifestations in the Saudi community (17)(18)(19)(20)(21)(22)(23)(24). Molecular testing of potential carriers of those mutations may be urgently needed.…”

Section: Discussionmentioning

confidence: 99%