Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Abstract Background Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, LARS2, and TWNK genes. All reported cases d...

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Bibliographic Details
Main Authors: Hannah E. Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Nancy Young, Nancy Kuntz, Vamshi K. Rao
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Medical Genomics
Subjects:
Perrault Syndrome
PRLTS
TWNK
Ataxia
Axonal polyneuropathy
Auditory neuropathy/auditory synaptopathy
Online Access:https://doi.org/10.1186/s12920-023-01599-4

Internet

https://doi.org/10.1186/s12920-023-01599-4

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