Perrault syndrome

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

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PMID (PMCID)
29205794	FEMALE	Child
	Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
	Kosaki R, Horikawa R, Fujii E, Kosaki K. Am J Med Genet A. 2018;176(2):404-408.
	Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1).