Recent Publications on the Genetics of Neuropathy

Work From the MGH Nerve Unit



Association of small-fiber polyneuropathy with three previously unassociated rare missense SCN9A variants.

MA Kelley, AL Oaklander.

Canadian Journal of Pain. 2020 February.




JAMANeurologyCover100x128_0Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy: A Review.

AL Oaklander, M Nolano.

JAMA Neurol. 2019 Sep 9.




2019%20RCT%20L-serine100x128_0Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

V Fridman, S Suriyanarayanan, P Novak, W David, EA Macklin,  D McKenna-Yasek, K Walsh, R Aziz-Bose, AL Oaklander, R Brown, T Hornemann, F Eichler.

Neurology. 2019 Jan 22;92(4):e359-e370.



Ion%20channels100x128_0Ion channels and neuropathic pain.

MC Klein, AL Oaklander.

Elife. 2018 Nov 26;7. pii: e42849.




2016%20mouse%20model%20of%20FD100x128_0Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.

E Morini, P Dietrich, M Salani, HM Downs, GR Wojtkiewicz, S Alli, A Brenner, M Nilbratt, JW LeClair, AL Oaklander, SA Slaugenhaupt, I Dragatsis.

Hum Mol Genet. 2016 Mar 15;25(6):1116-28.



 HSAN1%20History%20and%20Biomarkers100x128Natural history and biomarkers in hereditary sensory neuropathy type 1.

V Fridman, AL Oaklander, WS David, EA Johnson, J Pan, P Novak, RH Brown Jr, FS Eichler.

Muscle Nerve. 2015 Apr;51(4):489-95.




Work From the Zuchner Lab, University of Miami


NatGenCoverBiallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Cortese A, Zhu Y, Rebelo AP, et al.

Nat Genet. 2020 52(5):473-481.



AmJournalHumanGeneticsTruncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, et al.

Am J Hum Genet. 2019 104(4):767-773.




NatGen100x129Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, et al.

Nat Genet. 2019 51(4):649-658.




Brain100x129SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.

Rebelo AP, Saade D, Pereira CV, et al.

Brain 2019 141(3):662-672.