- Three Patients With Classic and Atypical Neurodegeneration With Brain Iron Accumulation
-
Lee SY, Lyoo CH, Seo KD, Lee MS
- KMID: 2185069
- J Korean Neurol Assoc.
- 2008 Aug;26(3):243-246.
Neurodegeneration with brain iron accumulation (NBIA) is a disorder characterized by various mixtures of extrapyramidal, pyramidal or psychiatric abnormalities associated with iron accumulation in the basal ganglia. The mutations in... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Infantile Neuroaxonal Dystrophy
-
Park CI, Shin JC, Kim YC, Kim HJ
- KMID: 1960280
- J Korean Acad Rehabil Med.
- 1997 Feb;21(1):223-228.
We herein report a case of infantile neuroaxonal dystrophy (INAD) with protracted course. The 3 year old patient suffered from ataxia, gait disturbance, oculomotor disturbance, psychomotor regression and bilateral pyramida... -
- CITED
-
- Close
- SHARE
-
- Close
- Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration
-
Park JK, Youn J, Cho JW
- KMID: 2465835
- Precis Future Med.
- 2019 Sep;3(3):135-138.
- doi: 10.23838/pfm.2019.00086
Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in... -
- CITED
-
- Close
- SHARE
-
- Close
