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.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

Total: 8

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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).
28830375 (5568266)	FEMALE	Adult
	A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
	Chen K, Yang K, Luo SS, Chen C, Wang Y, Wang YX, Li DK, Yang YJ, Tang YL, Liu FT, Wang J, Wu JJ, Sun YM. BMC Med Genet. 2017;18(1):91.
	Besides, attention should be paid to distinguish Perrault syndrome from D-bifunctional protein deficiency and hereditary ataxia.
24602372 (4015298)	MALE	Adult
	Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.
	Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK. BMC Med Genet. 2014;15:30.
	Compound heterozygous mutations in HSD17B4 have also been reported in two sisters diagnosed with Perrault syndrome (MIM # 233400), who presented in adolescence with ovarian dysgenesis, hearing loss, and ataxia.
19033811	FEMALE	Adult
	Perrault Syndrome with progressive nervous system involvement.
	Kobe C, Kracht LW, Timmermann L, Bachmann J, Schmidt MC. Clin Nucl Med. 2008;33(12):922-4.
	A 21-year-old woman with a Perrault Syndrome (PS) presented with progressive ataxia.
11170090	MIXED_SAMPLE	Adult
	New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.
	Amor DJ, Delatycki MB, Gardner RJ, Storey E. Am J Med Genet. 2001;99(1):29-33.
	The association of ataxia and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type ataxia and as a variant of Perrault syndrome, but we suggest the use of a separate category of ataxia with hypergonadotropic hypogonadism.
11170090	MIXED_SAMPLE	Adult
	New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.
	Amor DJ, Delatycki MB, Gardner RJ, Storey E. Am J Med Genet. 2001;99(1):29-33.
	The association of ataxia and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type ataxia and as a variant of Perrault syndrome, but we suggest the use of a separate category of ataxia with hypergonadotropic hypogonadism.
11170090	MIXED_SAMPLE	Adult
	New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.
	Amor DJ, Delatycki MB, Gardner RJ, Storey E. Am J Med Genet. 2001;99(1):29-33.
	The association of ataxia and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type ataxia and as a variant of Perrault syndrome, but we suggest the use of a separate category of ataxia with hypergonadotropic hypogonadism.
8923934	MIXED_SAMPLE
	Neurologic anomalies of Perrault syndrome.
	Gottschalk ME, Coker SB, Fox LA. Am J Med Genet. 1996;65(4):274-6.
	The high incidence of neurologic anomalies suggest that ataxia or mental retardation may not be just coincidental findings, but pleiotropic manifestations of Perrault syndrome.