Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).

Literature DB >> 27801611

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

Ethan Gore¹, Brian S Appleby², Mark L Cohen³, Suzanne D DeBrosse⁴, James B Leverenz⁵, Bruce L Miller⁶, Sandra L Siedlak⁷, Xiongwei Zhu⁷, Alan J Lerner¹.

Abstract

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.

Entities: Chemical Disease Gene Mutation Species

Keywords: Lewy body; Mitochondrial membrane protein-associatedneurodegeneration (MPAN); Parkinsonism; neurodegeneration with brain iron accumulation (NBIA); whole exome sequencing

Mesh：

Substances：

Year: 2016 PMID： 27801611 PMCID： PMC5568540 DOI： 10.1080/13554794.2016.1247458

Source DB: PubMed Journal: Neurocase ISSN： 1355-4794 Impact factor: 0.881

50 in total

1. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Authors: Monika B Hartig; Arcangela Iuso; Tobias Haack; Tomasz Kmiec; Elzbieta Jurkiewicz; Katharina Heim; Sigrun Roeber; Victoria Tarabin; Sabrina Dusi; Malgorzata Krajewska-Walasek; Sergiusz Jozwiak; Maja Hempel; Juliane Winkelmann; Matthias Elstner; Konrad Oexle; Thomas Klopstock; Wolfgang Mueller-Felber; Thomas Gasser; Claudia Trenkwalder; Valeria Tiranti; Hans Kretzschmar; Gerd Schmitz; Tim M Strom; Thomas Meitinger; Holger Prokisch
Journal: Am J Hum Genet Date: 2011-10-07 Impact factor: 11.025

2. Hereditary neurological disease with acanthocytosis. A new syndrome.

Authors: I M Levine; J W Estes; J M Looney
Journal: Arch Neurol Date: 1968-10

3. Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.

Authors: Abdulaziz Al-Semari; Saeed Bohlega
Journal: Am J Med Genet A Date: 2007-01-15 Impact factor: 2.802

Review 4. The neurological presentation of ceruloplasmin gene mutations.

Authors: Alisdair McNeill; Massimo Pandolfo; Jens Kuhn; Huifang Shang; Hiroaki Miyajima
Journal: Eur Neurol Date: 2008-07-30 Impact factor: 1.710

5. Young-onset Parkinson's disease revisited--clinical features, natural history, and mortality.

Authors: A Schrag; Y Ben-Shlomo; R Brown; C D Marsden; N Quinn
Journal: Mov Disord Date: 1998-11 Impact factor: 10.338

6. Neurodegeneration associated with genetic defects in phospholipase A(2).

Authors: A Gregory; S K Westaway; I E Holm; P T Kotzbauer; P Hogarth; S Sonek; J C Coryell; T M Nguyen; N Nardocci; G Zorzi; D Rodriguez; I Desguerre; E Bertini; A Simonati; B Levinson; C Dias; C Barbot; I Carrilho; M Santos; I Malik; J Gitschier; S J Hayflick
Journal: Neurology Date: 2008-09-17 Impact factor: 9.910

7. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

Authors: M Deschauer; C Gaul; C Behrmann; H Prokisch; S Zierz; T B Haack
Journal: J Neurol Date: 2012-05-15 Impact factor: 4.849

8. Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.

Authors: A Li; R Paudel; R Johnson; R Courtney; A J Lees; J L Holton; J Hardy; T Revesz; H Houlden
Journal: Neuropathol Appl Neurobiol Date: 2013-02 Impact factor: 8.090

9. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Authors: Sabrina Dusi; Lorella Valletta; Tobias B Haack; Yugo Tsuchiya; Paola Venco; Sebastiano Pasqualato; Paola Goffrini; Marco Tigano; Nikita Demchenko; Thomas Wieland; Thomas Schwarzmayr; Tim M Strom; Federica Invernizzi; Barbara Garavaglia; Allison Gregory; Lynn Sanford; Jeffrey Hamada; Conceição Bettencourt; Henry Houlden; Luisa Chiapparini; Giovanna Zorzi; Manju A Kurian; Nardo Nardocci; Holger Prokisch; Susan Hayflick; Ivan Gout; Valeria Tiranti
Journal: Am J Hum Genet Date: 2013-12-19 Impact factor: 11.025

10. Neuroferritinopathy: a new inborn error of iron metabolism.

Authors: Michael J Keogh; Patricia Jonas; Alan Coulthard; Patrick F Chinnery; John Burn
Journal: Neurogenetics Date: 2012-01-26 Impact factor: 2.660

7 in total

1. Late-Onset Mitochondrial Membrane Protein-Associated Neurodegeneration With Extensive Brain Iron Deposition.

Authors: Afagh Alavi; Mahisa Mokhtari; Reza Hajati; Atefeh Davarzani; Alfonso Fasano; Anthony E Lang; Mohammad Rohani
Journal: Mov Disord Clin Pract Date: 2019-11-30

2. SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Authors: Gauthier Remiche; Isabelle Vandernoot; Niloufar Sadeghi-Meibodi; Laurence Desmyter
Journal: Neurogenetics Date: 2021-01-04 Impact factor: 2.660