Concepedia

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans

Jae‐Hyeok Lee, Jongkyu Park, Ho‐Sung Ryu, Hye-Young Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young Hee Sung, Seung Hwan Lee, Jee‐Young Lee,

Journal of Movement Disorders · 2016 · 27 citations · 17 references

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Abstract

We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

References

17

Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome

Susan J. Hayflick, Shawn K. Westaway, Barbara Levinson et al. · New England Journal of Medicine · 2003 · 712 citations · Full text

Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation

Lars Timmermann, K. Amande M. Pauls, K. Wieland et al. · Brain · 2010 · 190 citations · Full text

Genotypic and phenotypic spectrum of <i>PANK2</i> mutations in patients with neurodegeneration with brain iron accumulation

Monika Hartig, Konstanze Hörtnagel, Barbara Garavaglia et al. · Annals of Neurology · 2006 · 182 citations

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration

Madhavi Thomas, Susan J. Hayflick, Joseph Jankovic · Movement Disorders · 2004 · 148 citations

Altered Neuronal Mitochondrial Coenzyme A Synthesis in Neurodegeneration with Brain Iron Accumulation Caused by Abnormal Processing, Stability, and Catalytic Activity of Mutant Pantothenate Kinase 2

Paul T. Kotzbauer, Adam C. Truax, John Q. Trojanowski et al. · Journal of Neuroscience · 2005 · 148 citations · Full text