Literature DB >> 15367861

Hereditary sensory neuropathies.

Henry Houlden, Julian Blake, Mary M Reilly.   

Abstract

PURPOSE OF REVIEW: The hereditary sensory neuropathies, also known as the hereditary sensory and autonomic neuropathies, are a clinically and genetically heterogeneous group of disorders. As they are not as common as Charcot-Marie-Tooth disease, they do not receive the same level of attention, but there have been major advances in the identification of the causative genes in the past decade. Certain forms of hereditary sensory and autonomic neuropathy, especially hereditary sensory and autonomic neuropathy type I, which has minimal autonomic involvement and is more accurately termed hereditary sensory neuropathy type I, can present in a very similar fashion to certain forms of Charcot-Marie-Tooth disease (Charcot-Marie-Tooth type 2B, see below), and therefore it is important that clinicians who regularly manage patients with neuropathy are familiar with the latest developments in the hereditary sensory and autonomic neuropathies. This review will concentrate on the recent genetic advances in hereditary sensory and autonomic neuropathy, and especially on those forms that overlap clinically with Charcot-Marie-Tooth disease, hence the title of the review 'Hereditary sensory neuropathies' rather than hereditary sensory and autonomic neuropathies.

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Year:  2004        PMID: 15367861     DOI: 10.1097/00019052-200410000-00007

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  16 in total

Review 1.  Small-fibre neuropathies--advances in diagnosis, pathophysiology and management.

Authors:  Janneke G Hoeijmakers; Catharina G Faber; Giuseppe Lauria; Ingemar S Merkies; Stephen G Waxman
Journal:  Nat Rev Neurol       Date:  2012-05-29       Impact factor: 42.937

Review 2.  Neurology and orthopaedics.

Authors:  Henry Houlden; Paul Charlton; Dishan Singh
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-03       Impact factor: 10.154

Review 3.  Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification.

Authors:  Coreen Schwartzlow; Mohamed Kazamel
Journal:  Curr Neurol Neurosci Rep       Date:  2019-06-20       Impact factor: 5.081

Review 4.  Molecular genetics of hereditary sensory neuropathies.

Authors:  Michaela Auer-Grumbach; Barbara Mauko; Piet Auer-Grumbach; Thomas R Pieber
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

5.  A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

Authors:  Saranya Suriyanarayanan; Alaa Othman; Bianca Dräger; Anja Schirmacher; Peter Young; Lejla Mulahasanovic; Konstanze Hörtnagel; Saskia Biskup; Arnold von Eckardstein; Thorsten Hornemann; Museer A Lone
Journal:  Neuromolecular Med       Date:  2019-04-06       Impact factor: 3.843

6.  The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Authors:  Saranya Suriyanarayanan; Mari Auranen; Jussi Toppila; Anders Paetau; Maria Shcherbii; Eino Palin; Yu Wei; Tarja Lohioja; Beate Schlotter-Weigel; Ulrike Schön; Angela Abicht; Bernd Rautenstrauss; Henna Tyynismaa; Maggie C Walter; Thorsten Hornemann; Emil Ylikallio
Journal:  Neuromolecular Med       Date:  2015-11-16       Impact factor: 3.843

7.  The external aldimine form of serine palmitoyltransferase: structural, kinetic, and spectroscopic analysis of the wild-type enzyme and HSAN1 mutant mimics.

Authors:  Marine C C Raman; Kenneth A Johnson; Beverley A Yard; Jonathan Lowther; Lester G Carter; James H Naismith; Dominic J Campopiano
Journal:  J Biol Chem       Date:  2009-04-17       Impact factor: 5.157

Review 8.  Charcot-Marie-Tooth disease and intracellular traffic.

Authors:  Cecilia Bucci; Oddmund Bakke; Cinzia Progida
Journal:  Prog Neurobiol       Date:  2012-03-22       Impact factor: 11.685

9.  Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Authors:  G L Davidson; S M Murphy; J M Polke; M Laura; M A M Salih; F Muntoni; J Blake; S Brandner; N Davies; R Horvath; S Price; M Donaghy; M Roberts; N Foulds; G Ramdharry; D Soler; M P Lunn; H Manji; M B Davis; H Houlden; M M Reilly
Journal:  J Neurol       Date:  2012-08       Impact factor: 4.849

10.  Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Authors:  Annelies Rotthier; Jonathan Baets; Els De Vriendt; An Jacobs; Michaela Auer-Grumbach; Nicolas Lévy; Nathalie Bonello-Palot; Sara Sebnem Kilic; Joachim Weis; Andrés Nascimento; Marielle Swinkels; Moyo C Kruyt; Albena Jordanova; Peter De Jonghe; Vincent Timmerman
Journal:  Brain       Date:  2009-08-03       Impact factor: 13.501

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