Literature DB >> 19022461

Case of sensory ataxic ganglionopathy-myelopathy in copper deficiency.

Gabriella Zara1, Francesca Grassivaro, Filippo Brocadello, Renzo Manara, Francesco Francini Pesenti.   

Abstract

Spinal cord involvement associated with severe copper deficiency has been reported in the last 8 years. Copper deficiency may produce an ataxic myelopathy. Clinical and neuroimaging findings are similar to the subacute combined degeneration seen in patients with vitamin B12 deficiency. Macrocytic, normocytic and microcytic anemia, leukopenia and, in severe cases, pancytopenia are well known hematologic manifestations. The most patients with copper deficiency myelopathy had unrecognized carency. Some authors suggested that early recognition and copper supplementation may prevent neurologic deterioration but clinical findings do not improve. We present a patient with copper deficiency, dorsal root ganglions and cervical dorsal columns involvement. Clinical status and neuroimaging improved after copper replacement therapy. Sensory neurons of dorsal root ganglia may be the most sensitive nervous pathway. In this case the early copper treatment allowed to improve neurologic lesions and to prevent further involvements.

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Year:  2008        PMID: 19022461     DOI: 10.1016/j.jns.2008.10.017

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  4 in total

1.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

Authors:  Marina L Kennerson; Garth A Nicholson; Stephen G Kaler; Bartosz Kowalski; Julian F B Mercer; Jingrong Tang; Roxana M Llanos; Shannon Chu; Reinaldo I Takata; Carlos E Speck-Martins; Jonathan Baets; Leonardo Almeida-Souza; Dirk Fischer; Vincent Timmerman; Philip E Taylor; Steven S Scherer; Toby A Ferguson; Thomas D Bird; Peter De Jonghe; Shawna M E Feely; Michael E Shy; James Y Garbern
Journal:  Am J Hum Genet       Date:  2010-02-18       Impact factor: 11.025

Review 2.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

3.  Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.

Authors:  Ling Yi; Anthony Donsante; Marina L Kennerson; Julian F B Mercer; James Y Garbern; Stephen G Kaler
Journal:  Hum Mol Genet       Date:  2011-12-30       Impact factor: 6.150

4.  Differential expression of ATP7A, ATP7B and CTR1 in adult rat dorsal root ganglion tissue.

Authors:  Virginia Ip; Johnson J Liu; Julian F B Mercer; Mark J McKeage
Journal:  Mol Pain       Date:  2010-09-13       Impact factor: 3.395

  4 in total

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