Add to ORKGYoung 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
The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinica...
This doctoral thesis pictures neurodegenerative diseases as a multilevel process, describes various ...
Introduction. Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare genetic disease and ...
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare and devastating disorders c...
Background Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified ...
Abstract Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic ...
Background Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by pathogeni...
Introduction: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurode...
Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondr...
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typi...
We report the case of a 23-year-old Italian female harboring the rare m.3291T>C mutation in the MT-T...
Background: Mitochondrial membrane protein-associated neurodegeneration is an autosomal-recessive di...
The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinica...
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progres...
Neurodegeneration with brain iron accumulation is a clinically and genetically heterogeneous group o...
The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinica...
This doctoral thesis pictures neurodegenerative diseases as a multilevel process, describes various ...
Introduction. Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare genetic disease and ...
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare and devastating disorders c...
Background Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified ...
Abstract Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic ...
Background Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by pathogeni...
Introduction: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurode...
Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondr...
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typi...
We report the case of a 23-year-old Italian female harboring the rare m.3291T>C mutation in the MT-T...
Background: Mitochondrial membrane protein-associated neurodegeneration is an autosomal-recessive di...
The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinica...
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progres...
Neurodegeneration with brain iron accumulation is a clinically and genetically heterogeneous group o...
The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinica...
This doctoral thesis pictures neurodegenerative diseases as a multilevel process, describes various ...
Introduction. Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare genetic disease and ...