<scp>ITPR1</scp> Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome

This case report adds to the growing body of literature on ITPR1-related diseases, highlighting the phenotypic variability of ITPR1 and identifying it as a potential cause of isolated SAN. While a connection to Sjögren's syndrome cannot be excluded, the role of ITPR1 as the primary cause remains the focus. We propose that the neuropathy community consider screening SAN patients for ITPR1 deletions, as additional cases may help clarify its clinical significance.

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Publication Details

Journal
Journal of the Peripheral Nervous System
Published
2025-12-01
DOI
https://doi.org/10.1111/jns.70083
Primary Topic
Salivary Gland Disorders and Functions
Type
article
Field-Weighted Citation Impact
0.00

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article

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome

James M. Polke, Mary M. Reilly, S. Haddad, Roy Poh et al.
Journal of the Peripheral Nervous System
Salivary Gland Disorders and Functions
article

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome

James M. Polke, Mary M. Reilly, S. Haddad, Roy Poh, Jason Hehir, Julian Blake
article en

Abstract

This case report adds to the growing body of literature on ITPR1-related diseases, highlighting the phenotypic variability of ITPR1 and identifying it as a potential cause of isolated SAN. While a connection to Sjögren's syndrome cannot be excluded, the role of ITPR1 as the primary cause remains the focus. We propose that the neuropathy community consider screening SAN patients for ITPR1 deletions, as additional cases may help clarify its clinical significance.

Journal of the Peripheral Nervous SystemVol. 30(4)
Norfolk and Norwich University Hospital (GB), National Hospital for Neurology and Neurosurgery (GB), Genomics (United Kingdom) (GB), University College London (GB)
Charcot-Marie-Tooth Association, Wellcome Trust, National Institute for Health and Care Research, University College London
Openalex Percentile: Top 53%
Salivary Gland Disorders and Functions
DOIOpen Access PDFOpenAlex
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<scp>ITPR1</scp> Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome — James M. Polke, Mary M. Reilly, et al. · Journal of the Peripheral Nervous System (2025) | TGRS Research Map | TGRS