Cerebral folate deficiency (CFD): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Cerebral folate deficiency (CFD): clinical features. The onset age is around 4-6 months. Fully referenced neurology checklist.
Onset features
- The onset age is around 4-6 months
- It may also present in adolescence and adult age
Developmental features
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Movement disorders
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Epilepsy: types
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Other neurological features
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Adolescent onset presentation: features
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References
- Ramaekers V, Sequeira JM, Quadros EV. Clinical recognition and aspects of the cerebral folate deficiency syndromes. Clin Chem Lab Med 2013; 51:497-511.
- Ramaekers VT, Blau N. Cerebral folate deficiency. Dev Med Child Neurol 2004; 46:843-851.
- Hyland K, Shoffner J, Heales SJ. Cerebral folate deficiency. J Inherit Metab Dis 2010; 33:563-570.
- Gordon N. Cerebral folate deficiency. Dev Med Child Neurol 2009; 51:180-182.
- Sadighi Z, Butler IJ, Koenig MK. Adult-onset cerebral folate deficiency. Arch Neurol 2012; 69:778-779.
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