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Hereditary Sensory Radicular Neuropathy

MedGen UID:
39216
•Concept ID:
C0086405
•
Disease or Syndrome

Professional guidelines

PubMed

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.
Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H
Respir Med 2018 Aug;141:37-46. Epub 2018 Jun 21 doi: 10.1016/j.rmed.2018.06.017. PMID: 30053970Free PMC Article
Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies.
Mroczek M, Kabzińska D, Kochański A
Acta Neurobiol Exp (Wars) 2015;75(2):126-43. doi: 10.55782/ane-2015-2023. PMID: 26232991

Recent clinical studies

Etiology

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.
Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T
Nat Genet 1996 May;13(1):101-4. doi: 10.1038/ng0596-101. PMID: 8673084

Diagnosis

Proposal for a standardized protocol for the systematic orofacial examination of patients with Hereditary Sensory Radicular Neuropathy.
Siqueira SR, Okada M, Lino AM, Teixeira MJ, Siqueira JT
Int Endod J 2006 Nov;39(11):905-15. doi: 10.1111/j.1365-2591.2006.01160.x. PMID: 17014530
Is there involvement of the central nervous system in hereditary sensory radicular neuropathy?
Hageman G, Hilhorst BG, Rozeboom AR
Clin Neurol Neurosurg 1992;94(1):49-54. doi: 10.1016/0303-8467(92)90119-n. PMID: 1321699
Hereditary sensory radicular neuropathy (HSN).
Yalaz K, Renda Y, Kuru B
Turk J Pediatr 1980 Jan-Apr;22(1-2):32-8. PMID: 6942560
Hereditary sensory radicular neuropathy. A case report.
Nelson PB, Silvani S
J Am Podiatry Assoc 1979 Sep;69(9):564-7. doi: 10.7547/87507315-69-9-564. PMID: 290687

Prognosis

Is there involvement of the central nervous system in hereditary sensory radicular neuropathy?
Hageman G, Hilhorst BG, Rozeboom AR
Clin Neurol Neurosurg 1992;94(1):49-54. doi: 10.1016/0303-8467(92)90119-n. PMID: 1321699
Hereditary sensory neuropathy with spastic paraplegia.
Cavanagh NP, Eames RA, Galvin RJ, Brett EM, Kelly RE
Brain 1979 Mar;102(1):79-94. doi: 10.1093/brain/102.1.79. PMID: 218673

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