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Article

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

Neurology - 30 May 2017

Manganelli Fiore, Parisi Silvia, Nolano Maria, Tao Feifei, Paladino Simona, Pisciotta Chiara, Tozza Stefano, Nesti Claudia, Rebelo Adriana P, Provitera Vincenzo, Santorelli Filippo M, Shy Michael E, Russo Tommaso, Zuchner Stephan, Santoro Lucio

Abstract excerpt

OBJECTIVE: To describe a second hereditary sensory autonomic neuropathy type VI (HSAN-VI) family harboring 2 novel heterozygous mutations in the dystonin (DST) gene and to evaluate their effect on neurons derived from induced pluripotent stem cells (iPSC). METHODS: The family consisted of 3 affected siblings from nonconsanguineous healthy parents. All members underwent clinical and electrophysiologic evaluation...

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Identifiers

PMID: 28468842
DOI: 10.1212/WNL.0000000000003992
PMCID: PMC5447400

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DST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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