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Megalencephalic leukoencephalopathy with subcortical cysts
| Content Provider | Semantic Scholar |
|---|---|
| Author | Hamilton, Eline M. C. Tekturk, Pınar Cialdella, Fia Rappard, Diane F. Van Wolf, Nicole I. Yalçinkaya, Cengiz Çetinçelik, Ümran Rajaee, A. Nikoo Kariminejad, Ariana Paprocka, Justyna Yapici, Zuhal Bošnjak, Vlatka Mejaški Knaap, Marjo S. Van Der |
| Copyright Year | 2003 |
| Abstract | Megalencephalic leukoencephalopathy with subcortical cysts is one of the newly described white-matter disorders for which recognition has been brought about by advances in imaging technology. The essential diagnostic features include megalencephaly noted in infancy, motor disability in the form of spasticity, ataxia, occasional seizures, mild cognitive decline, and slow progression. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, megalencephalic leukoencephalopathy with subcortical cysts can be distinguished from other conditions (ie, Alexander's disease, Canavan's disease, glutaricaciduria type I) that present in infancy with megalencephaly. Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive disorder, and mutations in the MLC1 gene have now been shown to cause this condition. Several genotypic and phenotypic variations have been described. In India, megalencephalic leukoencephalopathy with subcortical cysts occurs predominantly in the Agarwal community. A common mutation in the MLC1 gene has been seen in 31 Agarwal patients, which suggests a founder effect. |
| Starting Page | e1395 |
| Ending Page | e1403 |
| Page Count | 9 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts.pdf |
| Alternate Webpage(s) | http://dare.ubvu.vu.nl/bitstream/handle/1871/12900/title%20page.pdf?isAllowed=y&sequence=2 |
| PubMed reference number | 14572144v1 |
| Volume Number | 90 |
| Journal | Journal of child neurology |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Ataxia Autosomal Recessive Disorder Autosomal recessive inheritance Binswanger Disease Canavan Disease Cognition Disorders Cyst Genotype Glutaric aciduria Leukocytes Leukoencephalopathies Macrocephaly Magnetic Resonance Imaging Mood Disorders Movement Disorders Muscle Spasticity Mutation Parkinson Disease Patients Seizures Temporal Lobe |
| Content Type | Text |
| Resource Type | Article |
