Abnormal myelination in Angelman syndrome.
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Abnormal myelination in Angelman syndrome. / Harting, Inga; Seitz, Angelika; Rating, Dietz; Sartor, Klaus; Zschocke, Johannes; Janssen, Bart; Ebinger, Friedrich; Wolf, Nicole I.
In: EUR J PAEDIATR NEURO, Vol. 13, No. 3, 3, 2009, p. 271-276.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Abnormal myelination in Angelman syndrome.
AU - Harting, Inga
AU - Seitz, Angelika
AU - Rating, Dietz
AU - Sartor, Klaus
AU - Zschocke, Johannes
AU - Janssen, Bart
AU - Ebinger, Friedrich
AU - Wolf, Nicole I
PY - 2009
Y1 - 2009
N2 - Patients with Angelman syndrome (OMIM # 105830) are generally thought to have normal brain imaging studies except for occasional minor cerebral atrophy. We report 9 patients with genetically proven Angelman syndrome, who were examined by magnetic resonance imaging (MRI) between the ages of 7.5 months and 5 years. MRI in the 5 patients examined during infancy revealed myelination delay and a deficit of white matter. Retarded and/or abnormal myelination in Angelman syndrome seems to be a common finding that may be diagnostically misleading. This is particularly important in the evaluation of infants with possible Angelman syndrome, who present with nonspecific clinical features and have not yet developed the characteristic behavioural, language, and movement abnormalities.
AB - Patients with Angelman syndrome (OMIM # 105830) are generally thought to have normal brain imaging studies except for occasional minor cerebral atrophy. We report 9 patients with genetically proven Angelman syndrome, who were examined by magnetic resonance imaging (MRI) between the ages of 7.5 months and 5 years. MRI in the 5 patients examined during infancy revealed myelination delay and a deficit of white matter. Retarded and/or abnormal myelination in Angelman syndrome seems to be a common finding that may be diagnostically misleading. This is particularly important in the evaluation of infants with possible Angelman syndrome, who present with nonspecific clinical features and have not yet developed the characteristic behavioural, language, and movement abnormalities.
KW - Humans
KW - Male
KW - Female
KW - Child, Preschool
KW - Infant
KW - Retrospective Studies
KW - Magnetic Resonance Imaging
KW - Angelman Syndrome diagnosis
KW - Brain pathology
KW - Developmental Disabilities diagnosis
KW - Image Processing, Computer-Assisted
KW - Nerve Fibers, Myelinated pathology
KW - Humans
KW - Male
KW - Female
KW - Child, Preschool
KW - Infant
KW - Retrospective Studies
KW - Magnetic Resonance Imaging
KW - Angelman Syndrome diagnosis
KW - Brain pathology
KW - Developmental Disabilities diagnosis
KW - Image Processing, Computer-Assisted
KW - Nerve Fibers, Myelinated pathology
M3 - SCORING: Zeitschriftenaufsatz
VL - 13
SP - 271
EP - 276
JO - EUR J PAEDIATR NEURO
JF - EUR J PAEDIATR NEURO
SN - 1090-3798
IS - 3
M1 - 3
ER -