Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A

Shin, 2003, Association of the kinesin motor KIF1A with the multimodular protein liprin-alpha, J Biol Chem, 278, 11393, 10.1074/jbc.M211874200 Lee, 2015, De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy, Hum Mutat, 36, 69, 10.1002/humu.22709 Rivière, 2011, KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2, Am J Hum Genet, 89, 219, 10.1016/j.ajhg.2011.06.013 Klebe, 2006, Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3, Brain, 129, 1456, 10.1093/brain/awl012 Aguilera, 2021, The novel KIF1A missense variant (R169T) strongly reduces microtubule stimulated ATPase activity and is associated with NESCAV syndrome, Front Neurosci, 15, 618098, 10.3389/fnins.2021.618098 Hamdan, 2011, Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability, Am J Hum Genet, 88, 306, 10.1016/j.ajhg.2011.02.001 Hori, 2016, Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome, Am J Med Genet A, 170, 1863, 10.1002/ajmg.a.37653 Bacon, 1992, Haemorrhagic shock encephalopathy syndrome in the British Isles, Arch Dis Child, 67, 985, 10.1136/adc.67.8.985 Levin, 1983, Haemorrhagic shock and encephalopathy: a new syndrome with a high mortality in young children, Lancet, 322, 64, 10.1016/S0140-6736(83)90057-0 Kuki, 2015, Characteristic neuroradiologic features in hemorrhagic shock and encephalopathy syndrome, J Child Neurol, 30, 468, 10.1177/0883073814558119 Hoshino, 2012, Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes, Brain Dev, 34, 337, 10.1016/j.braindev.2011.07.012 Hirayama, 2017, Status Epilepticus Study G. “Symptomatic” infection-associated acute encephalopathy in children with underlying neurological disorders, Brain Dev, 39, 243, 10.1016/j.braindev.2016.09.014 Baugnon, 2010, Hemorrhagic shock and encephalopathy syndrome in a quadriplegic child: an argument for the triggering role of impaired thermoregulatory response, Spine (Phila Pa 1976), 35, E730, 10.1097/BRS.0b013e3181d952fb Samanta, 2019, PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex, J Clin Neurosci, 61, 298, 10.1016/j.jocn.2018.10.091 Tanaka, 2016, The molecular motor KIF1A transports the TrkA neurotrophin receptor and is essential for sensory neuron survival and function, Neuron, 90, 1215, 10.1016/j.neuron.2016.05.002 Loewenthal, 2005, Nerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV, Pediatr Res, 57, 587, 10.1203/01.PDR.0000155941.37155.41 Langlois, 2016, De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome, Eur J Hum Genet, 24, 949, 10.1038/ejhg.2015.217 Okamoto, 2014, KIF1A mutation in a patient with progressive neurodegeneration, J Hum Genet, 59, 639, 10.1038/jhg.2014.80 Esmaeeli Nieh, 2015, De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy, Ann Clin Transl Neurol, 2, 623, 10.1002/acn3.198 Hotchkiss, 2016, Novel de novo mutations in KIF1A as a cause of hereditary spastic paraplegia with progressive central nervous system involvement, J Child Neurol, 31, 1114, 10.1177/0883073816639718 Van Beusichem, 2020, Mobility characteristics of children with spastic paraplegia due to a mutation in the KIF1A Gene, Neuropediatrics, 51, 146, 10.1055/s-0039-3400988