35 article(s) found.
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Burning chest pain as a prodromal sign in autopsy- proven Parkinson’s disease dementia [2022] - 1,058KB
by Dallah Yoo, Sung-Hye Park, Man Jin Kim, Tae-Beom Ahn
Pain is common in Parkinson’s disease (PD) from its early phase. However, there are no reports of autopsy-proven PD dementia with unusual pain. We report the case of a woman with PD dementia who ini...

Hemichorea-hemiballism in a diabetic patient with euglycemia at presentation [2022] - 859KB
by Somdattaa Ray, Vikram V Kamath, K N Rajesh
Hemichorea hemiballismus syndrome (HCHB) is commonly seen in an acute setting of non ketotic hyperglycaemia. Hemichorea hemiballismus has been rarely reported in the setting of normal blood sugars in ...

A novel p.Ala34Val variant in C19orf12 is associated with neurodegeneration with brain iron accumulation [2022] - 513KB
by Ayca Kocaaga, Pınar Uzun Uslu
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 di...

A novel splice-site variant in the MCPH1 gene manifests with autosomal recessive primary microcephaly [2022] - 594KB
by Ayca Kocaaga, Sevgi Yimenicioglu
Autosomal recessive primary microcephaly is a rare neurodevelopmental disorder that results in severe microcephaly, reduction of brain volume, and mental retardation. Mutations in MCPH1, which encodes...

Is poor outcome predictable in posterior reversible encephalopathy syndrome? A case series [2022] - 279KB
by Seyda Erdoğan, Zerin Özaydın Aksun
Posterior reversible encephalopathy syndrome (PRES) was first described by Hinchey et al. in 1996, as a distinct clinico-radiological disease with clinically presence of acute onset seizures, encephal...

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