Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation

被引：1

作者：

Colucci, Fabiana ^{[1
,2
]}

Barca, Silvia ^{[3
]}

Cilia, Roberto ^{[1
,7
]}

De Franco, Valentino ^{[4
]}

Elia, Antonio E. ^{[1
]}

Andreasi, Nico Golfre ^{[1
]}

Romito, Luigi ^{[1
]}

Telese, Roberta ^{[1
]}

Braccia, Arianna ^{[1
]}

Leta, Valentina ^{[1
]}

Grisoli, Marina ^{[5
]}

Panteghini, Celeste ^{[6
]}

Garavaglia, Barbara ^{[6
]}

Devigili, Grazia ^{[1
]}

Eleopra, Roberto ^{[1
]}

机构：

[1] Fdn IRCCS Ist Neurol Carlo Besta, Dept Clin Neurosci, Parkinson & Movement Disorders Unit, Milan, Italy

[2] Univ Ferrara, Dept Neurosci & Rehabil, Ferrara, Italy

[3] Univ Cagliari, Dept Med Sci & Publ Hlth, Cagliari, Italy

[4] Univ Siena, Dept Med Surg & Neurol Sci, Siena, Italy

[5] Fdn IRCCS Ist Neurol Carlo Besta, Dept Neurosurg, Funct Neurosurg Unit, Milan, Italy

[6] Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy

[7] Fdn IRCCS Ist Neurol Carlo Besta, Via G Celoria 11, I-20133 Milan, Italy

来源：

MOVEMENT DISORDERS CLINICAL PRACTICE | 2024年 / 11卷

关键词：

aceruloplasminemia; MRI; iron accumulation; NBIA; basal ganglia cavitation; IRON; NEURODEGENERATION;

D O I：

10.1002/mdc3.14000

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：S14 / S16

页数：3

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