Aceruloplasminemia: Unique Clinical and <scp>MRI</scp> Findings in a Patient with a Novel Frameshift Mutation-Reference-Cited by-同舟云学术

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

Published:2024-02-23 Issue:S2 Volume:11 Page:
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Colucci Fabiana¹²,Barca Silvia³,Cilia Roberto¹^ORCID,De Franco Valentino⁴,Elia Antonio E.¹,Golfrè Andreasi Nico¹,Romito Luigi¹^ORCID,Telese Roberta¹,Braccia Arianna¹,Leta Valentina¹,Grisoli Marina⁵,Panteghini Celeste⁶,Garavaglia Barbara⁶,Devigili Grazia¹,Eleopra Roberto¹

Affiliation:

1. Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences Parkinson and Movement Disorders Unit Milan Italy

2. Department of Neuroscience and Rehabilitation University of Ferrara Ferrara Italy

3. Department of Medical Sciences and Public Health University of Cagliari Cagliari Italy

4. Department of Medical, Surgical and Neurological Sciences University of Siena Siena Italy

5. Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Neurosurgery Functional Neurosurgery Unit; Milano Milano Italy

6. Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Medical Genetics and Neurogenetics Milan Italy

Publisher

Wiley

Reference11 articles.

1. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

2. Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

3. Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload;Touarsa F;BJR Case Rep,2022

4. Case 193: Neuroferritinopathy—A Brain Iron Accumulation and Neurodegenerative Disorder

5. Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis

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