Turk J Haematol 2018 08 2;35(3):206-207. Epub 2018 Feb 2.
University of Health Sciences, Kanuni Sultan Süleyman Traning and Research Hospital, Clinic of Pediatric Hematology and Oncology, İstanbul, Turkey
Front Neurosci 2021 7;15:680572. Epub 2021 Jul 7.
Department of Stem Cell Biology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Pathogenic variants in are the most frequent cause of autosomal recessive complicated hereditary spastic paraplegia (HSP). In addition to spastic paraplegia caused by corticospinal degeneration, most patients are significantly affected by progressive weakness and muscle wasting due to alpha motor neuron (MN) degeneration. Mitochondria play a crucial role in neuronal health, and mitochondrial deficits were reported in other types of HSPs. Read More
J Pediatr Neurosci 2021 Jan-Mar;16(1):71-74. Epub 2021 Jun 25.
Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Spastic paraplegia-56 is a rare autosomal recessive disorder, caused by homozygous or compound heterozygous mutations in the gene, located on chromosome 4. Till date, only 28 patients with this disorder have been reported in the literature. We report a new case of CYP2U1-related spastic paraplegia-56. Read More
J Pediatr Neurosci 2021 Jan-Mar;16(1):61-64. Epub 2021 Jun 25.
Department of Neurosurgery, RNT Medical College, Udaipur, India.
Introduction: Spontaneous spinal intramedullary hematoma is a rare cause of acute paraplegia in adults and is extremely uncommon in children. Very few cases with no apparent etiology (such as trauma, vascular lesions) have been reported in adults. We did not find any apparent cause for the hematoma in our patient and to the best of our knowledge, this is first case reported in infants. Read More
Parkinsonism Relat Disord 2021 Jul 13;89:146-147. Epub 2021 Jul 13.
Department of Movement Disorders, Apollo Hospital, Greams Lane, Chennai, India. Electronic address:
Mitochondrial Membrane-protein Associated Neurodegeneration (MPAN) is a rare disease, caused by C19orf12 mutations and up to 29 different mutations have been described. We report a young woman presented with spastic paraparesis due to C19orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature. Read More
J Spine Surg 2021 Jun;7(2):208-213
University at Buffalo Orthopaedics and Sports Medicine, Buffalo, NY, USA.
Giant cell tumors (GCT) are rare and account for approximately 5% of all primary bone tumors. GCTs in the spine make up less than 10% of all GCTs, and less than 5% of all primary spinal tumors. Less than 10% of spinal GCTs occur above the sacrum and cases involving the thoracic spine are seldom reported in the literature. Read More