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Sialidosis type I without cherry red spot – Is there a genetic basis?
Koti Neeraja,Vikram Venkappayya Holla,Shweta Prasad,Bharath Kumar Surisetti,Kempaiah Rakesh,Nitish Kamble,Ravi Yadav,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.1
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.
Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis
Vikram Venkappayya Holla,Koti Neeraja,Bharath Kumar Surisetti,Shweta Prasad,Nitish Kamble,Dwarakanath Srinivas,Ravi Yadav,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2020 Journal Of Movement Disorders Vol.13 No.3
The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We report our experience with the management of acute worsening of symptoms due to battery exhaustion in 3 patients with DBS.
Clinical and Imaging Profile of Patients with Joubert Syndrome
Bharath Kumar Surisetti,Vikram Venkappayya Holla,Shweta Prasad,Koti Neeraja,Nitish Kamble,Ravi Yadav,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.3
Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.