Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation

Lefter, Antonia; Mitrea, Iulia; Mitrea, Dan; Plaiasu, Vasilica; Bertoli‐Avella, Aida M.; Beetz, Christian; Cozma, Liviu; Tulbă, Delia; Mitu, Cristina; Popescu, Bogdan Ovidiu

doi:10.1080/13554794.2021.2022703

Cited by 1 publication

(2 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…16 Although the clinical diagnosis of NBIA is difficult, age of onset, family history, clinical findings, and characteristic imaging abnormalities are helpful pointer to the clinical diagnosis. 1,5,12 As highlighted in this case report, the application of next-generation sequencing (NGS) tests will improve diagnostic accuracy. 17 The differential diagnoses with similar clinical phenotype include multiple system atrophy, Machado Joseph's disease, Parkinson's plus syndrome and Wilson's disease.…”

Section: Discussionmentioning

confidence: 98%

“…The age of onset is from early childhood to early adulthood. 5 Clinical findings include muscle weakness and spasticity, extensor plantar response, dysarthria, dysphagia, dystonia, optic atrophy, urinary incontinence, cognitive retardation, and psychiatric symptoms. 2,4 Magnetic resonance imaging (MRI) typically shows hypointensity in the globus pallidus and substantia nigra on T2-weighted imaging.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A novel p.Ala34Val variant in C19orf12 is associated with neurodegeneration with brain iron accumulation

Kocaaga¹,

Uslu²

2022

NeuroAsia

View full text Add to dashboard Cite

Loss-of-function mutations in the C19orf12 gene may lead to mitochondrial membrane protein- associated neurodegeneration (MPAN), which is a subtype of neurodegeneration with brain iron accumulation disorders. It is manifest with juvenile-onset spastic paraparesis, dystonia, dysphagia, optic atrophy, decreased cognitive functions, and neuropsychiatric symptoms. Large amounts of iron are accumulated in the globus pallidus and substantia nigra pars reticulata due to abnormal brain iron metabolism. We report a novel C19orf12 (c.101C>T;p.Ala34Val) homozygous mutation in a Turkish man who presented with postural instability, slow gait and anxiety. Neuroimaging showed mild iron deposition in the basal ganglia and cortical atrophy. These results are consistent with the MPAN. This report demonstrates the importance of testing patients with spastic paraplegia, parkinsonism, motor axonal neuropathy, difficulty walking or dysarthria for MPAN.

show abstract