Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Journal of Neurology
Published in: Journal of Neurology 5/2012

01-05-2012 | Letter to the Editors

Perrault syndrome: further evidence for genetic heterogeneity

Authors: Emma M. Jenkinson, Jill Clayton-Smith, Sarju Mehta, Christopher Bennett, Willie Reardon, Andrew Green, Simon H. S. Pearce, Giuseppe De Michele, Gerard S. Conway, Deirdre Cilliers, Natalie Moreton, Julian R. E. Davis, Dorothy Trump, William G. Newman

Published in: Journal of Neurology | Issue 5/2012

Login to get access

Excerpt

Dear Sirs, …
Literature
1.
Perrault MKB, Housset E (1951) Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie. Bull Mem Soc Med Hop Paris 16:79–84
2.
Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM (2004) Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet A 128A:246–249PubMedCrossRef
3.
Nishi Y, Hamamoto K, Kajiyama M, Kawamura I (1988) The Perrault syndrome: clinical report and review. Am J Med Genet 31:623–629PubMedCrossRef
4.
Jacob JJ, Paul TV, Mathews SS, Thomas N (2007) Perrault syndrome with Marfanoid habitus in two siblings. J Pediatr Adolesc Gynecol 20:305–308PubMedCrossRef
5.
Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC (2010) Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet 87:282–288PubMedCrossRef
6.
7.
Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC (2011) Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci USA 108:6543–6548PubMedCrossRef
8.
Pallister PD, Opitz JM (1979) The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet 4:239–246PubMedCrossRef
9.
Berciano J (2011) Peripheral neuropathies: molecular diagnosis of Charcot-Marie-Tooth disease. Nat Rev Neurol 7:305–306PubMedCrossRef
Metadata
Title
Perrault syndrome: further evidence for genetic heterogeneity
Authors
Emma M. Jenkinson
Jill Clayton-Smith
Sarju Mehta
Christopher Bennett
Willie Reardon
Andrew Green
Simon H. S. Pearce
Giuseppe De Michele
Gerard S. Conway
Deirdre Cilliers
Natalie Moreton
Julian R. E. Davis
Dorothy Trump
William G. Newman
Publication date
01-05-2012
Publisher
Springer-Verlag
Published in
Journal of Neurology / Issue 5/2012
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-011-6285-5

Other articles of this Issue 5/2012

Journal of Neurology 5/2012 Go to the issue

Techniques in Clinical Science

Brain biopsy in benign neurological disease

Original Communication

Microcirculation response to local cooling in patients with Huntington’s disease

Original Communication

Double-blind randomized trial on short-term efficacy of the Semont maneuver for the treatment of posterior canal benign paroxysmal positional vertigo

Original Communication

Additional efficacy endpoints from pivotal natalizumab trials in relapsing-remitting MS

Original Communication

Contribution of routine brain MRI to the differential diagnosis of parkinsonism: a 3-year prospective follow-up study

Original Communication

New findings in the ataxia of Charlevoix–Saguenay