NDLI: Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

Please wait, while we are loading the content...

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

Content Provider	Scilit
Author	Gore, Ethan Appleby, Brian S. Cohen, Mark L. Debrosse, Suzanne D. Leverenz, James Miller, Bruce L. Siedlak, Sandra L. Zhu, Xiongwei Lerner, Alan J.
Copyright Year	2016
Description	Young onset dementias present significant diagnostic challenges. We present the case of a 35-year-old Kuwaiti man with social withdrawal, drowsiness, irritability, anxiety, aphasia, memory loss, hypereflexia, and Parkinsonism. Brain MRI showed bilateral symmetric gradient echo hypointensities in the globi pallidi and substantiae nigrae. Left cortical hypometabolism was seen on brain fluorodeoxyglucose positron emission tomography. A cortical brain biopsy revealed a high Lewy body burden. Genetic testing revealed a homozygous p.T11M mutation in the C19orf12 gene consistent with mitochondrial membrane protein-associated neurodegeneration. This is the oldest onset age of MPAN reported.
Related Links	http://europepmc.org/articles/pmc5568540?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568540/pdf
Ending Page	483
Page Count	8
Starting Page	476
ISSN	13554794
e-ISSN	14653656
DOI	10.1080/13554794.2016.1247458
Journal	Neurocase
Issue Number	5
Volume Number	22
Language	English
Publisher	Informa UK Limited
Publisher Date	2016-09-02
Access Restriction	Open
Subject Keyword	Journal: Neurocase Neuroimaging Mitochondrial Membrane Protein-associated Neurodegeneration (mpan) Neurodegeneration with Brain Iron Accumulation (nbia) Lewy Body Parkinsonism Whole Exome Sequencing
Content Type	Text
Resource Type	Article
Subject	Arts and Humanities Neurology (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Late‐Onset Mitochondrial Membrane Protein–Associated Neurodegeneration With Extensive Brain Iron Deposition

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders

Juvenile-onset Mitochondrial-membrane Protein-associated Neurodegeneration with Late Diagnosis

Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.

A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone

Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism

Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration

Neurodegeneration with brain iron accumulation

Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

Similar Documents

Late‐Onset Mitochondrial Membrane Protein–Associated Neurodegeneration With Extensive Brain Iron Deposition

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders

Juvenile-onset Mitochondrial-membrane Protein-associated Neurodegeneration with Late Diagnosis

Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.

A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone

Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism

Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration

Neurodegeneration with brain iron accumulation

Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)