Challenges in the identification of cobalamin-deficiency polyneuropathy

David S. Saperstein, Gil I. Wolfe, Gary S. Gronseth, Sharon P. Nations, Laura L. Herbelin, Wilson W. Bryan, Richard J. Barohn

Research output: Contribution to journalArticle

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Abstract

Background: Diagnosing cobalamin (Cbl) deficiency as a cause of polyneuropathy (PN) is problematic, as the frequency of both disorders increases with age, and serum Cbl levels can be difficult to interpret. Objectives: To identify unique clinical or laboratory features among PN patients with Cbl deficiency and to examine the role of testing of serum metabolite levels in the identification of Cbl deficiency. Design: Cohort survey comparing patients with Cbl deficiency and cryptogenic PN identified during a 2-year period. Cobalamin deficiency was diagnosed using low serum Cbl levels or elevated serum methylmalonic acid or homocysteine levels. Setting: Academic neuromusclar clinic. Results: Of 324 PN patients, 27 were diagnosed as having Cbl deficiency. Twelve had Cbl levels within the normal range, but elevated serum metabolite levels. Compared with patients with cryptogenic sensory/sensorimotor PN, those with Cbl deficiency were more likely to have concomitant involvement of the upper and lower extremities and experience symptom onset in the hands and a sudden onset of symptoms (P<.005). These differences were seen regardless of whether Cbl deficiency was defined using low Cbl levels or elevated serum metabolite levels. Autoimmune pernicious anemia was identified in 6 (50%) of 12 Cbl-deficient patients with normal serum Cbl levels. The patients with PN and Cbl deficiency showed little objective improvement after parenteral replacement therapy; however, progression occurred less often in these patients compared with those with cryptogenic sensory/sensorimotor PN (P=.02). Conclusions: This study highlights the challenges of proving that Cbl deficiency is the cause for PN and identifies clinical features that suggest Cbl-deficiency PN. Testing of serum metabolite levels may identify Cbl deficiency in some patients with normal serum Cbl levels.

Original languageEnglish (US)
Pages (from-to)1296-1301
Number of pages6
JournalArchives of Neurology
Volume60
Issue number9
DOIs
StatePublished - Sep 1 2003

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Polyneuropathies
Vitamin B 12
Serum
Methylmalonic Acid
Pernicious Anemia

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Saperstein, D. S., Wolfe, G. I., Gronseth, G. S., Nations, S. P., Herbelin, L. L., Bryan, W. W., & Barohn, R. J. (2003). Challenges in the identification of cobalamin-deficiency polyneuropathy. Archives of Neurology, 60(9), 1296-1301. https://doi.org/10.1001/archneur.60.9.1296

Challenges in the identification of cobalamin-deficiency polyneuropathy. / Saperstein, David S.; Wolfe, Gil I.; Gronseth, Gary S.; Nations, Sharon P.; Herbelin, Laura L.; Bryan, Wilson W.; Barohn, Richard J.

In: Archives of Neurology, Vol. 60, No. 9, 01.09.2003, p. 1296-1301.

Research output: Contribution to journalArticle

Saperstein, DS, Wolfe, GI, Gronseth, GS, Nations, SP, Herbelin, LL, Bryan, WW & Barohn, RJ 2003, 'Challenges in the identification of cobalamin-deficiency polyneuropathy', Archives of Neurology, vol. 60, no. 9, pp. 1296-1301. https://doi.org/10.1001/archneur.60.9.1296
Saperstein DS, Wolfe GI, Gronseth GS, Nations SP, Herbelin LL, Bryan WW et al. Challenges in the identification of cobalamin-deficiency polyneuropathy. Archives of Neurology. 2003 Sep 1;60(9):1296-1301. https://doi.org/10.1001/archneur.60.9.1296
Saperstein, David S. ; Wolfe, Gil I. ; Gronseth, Gary S. ; Nations, Sharon P. ; Herbelin, Laura L. ; Bryan, Wilson W. ; Barohn, Richard J. / Challenges in the identification of cobalamin-deficiency polyneuropathy. In: Archives of Neurology. 2003 ; Vol. 60, No. 9. pp. 1296-1301.
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