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Natural history of Christianson syndrome

Schroer, Richard J. ; Holden, Kenton R. ; Tarpey, Patrick S. ; Matheus, Maria Giselle ; Griesemer, David A. ; Friez, Michael J. ; Fan, Jane Zheng ; Simensen, Richard J. ; Strømme, Petter ; Stevenson, Roger E. ; Stratton, Michael R. ; Schwartz, Charles E.

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2775-2783 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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Título:
Natural history of Christianson syndrome
Autor: Schroer, Richard J. ; Holden, Kenton R. ; Tarpey, Patrick S. ; Matheus, Maria Giselle ; Griesemer, David A. ; Friez, Michael J. ; Fan, Jane Zheng ; Simensen, Richard J. ; Strømme, Petter ; Stevenson, Roger E. ; Stratton, Michael R. ; Schwartz, Charles E.
Assuntos: Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Adult ; Adult and adolescent clinical studies ; Biological and medical sciences ; Child ; Child, Preschool ; Christianson syndrome ; Eye Movements ; Family ; Fatal Outcome ; Female ; Humans ; Infant ; Intellectual deficiency ; intellectual disability ; Intelligence Tests ; Magnetic Resonance Imaging ; Male ; Medical genetics ; Medical sciences ; Mutation - genetics ; Pedigree ; Pregnancy ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry ; SLC9A6 ; Sodium-Hydrogen Exchangers - genetics ; sodium/hydrogen exchanger ; Syndrome ; X‐linked
É parte de: American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2775-2783
Notas: How to Cite this Article: Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. 2009. Natural history of Christianson syndrome. Am J Med Genet Part A 152A:2775–2783.
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Descrição: Christianson syndrome is an X‐linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others. They also noted the clinical similarities to Angelman syndrome and found cerebellar atrophy on MRI and elevated glutamate/glutamine in the basal ganglia on MRS. Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys. © 2010 Wiley‐Liss, Inc.
Editor: Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Idioma: Inglês

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Natural history of Christianson syndrome

Schroer, Richard J. ; Holden, Kenton R. ; Tarpey, Patrick S. ; Matheus, Maria Giselle ; Griesemer, David A. ; Friez, Michael J. ; Fan, Jane Zheng ; Simensen, Richard J. ; Strømme, Petter ; Stevenson, Roger E. ; Stratton, Michael R. ; Schwartz, Charles E.

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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