Response to Newman et al
Genet Med. 2017 Dec;19(12):10.1038/gim.2017.164. doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. NO ABSTRACT PMID:29215644 | PMC:PMC7787267 | DOI:10.1038/gim.2017.164
The humanistic burden of Pompe disease: are there still unmet needs? A systematic review
BMC Neurol. 2017 Nov 22;17(1):202. doi: 10.1186/s12883-017-0983-2. ABSTRACT BACKGROUND: Humanistic burden considers the impact of an illness on a patient’s health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular […]
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020. ABSTRACT Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 […]
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia
Neurology. 2017 Nov 28;89(22):2297-2298. doi: 10.1212/WNL.0000000000004689. Epub 2017 Nov 1. NO ABSTRACT PMID:29093066 | PMC:PMC5705245 | DOI:10.1212/WNL.0000000000004689
Molecular subtyping of tumors from patients with familial glioma
Neuro Oncol. 2018 May 18;20(6):810-817. doi: 10.1093/neuonc/nox192. ABSTRACT BACKGROUND: Single-gene mutation syndromes account for some familial glioma (FG); however, they make up only a small fraction of glioma families. Gliomas can be classified into 3 major molecular subtypes based on isocitrate dehydrogenase (IDH) mutation and 1p/19q codeletion. We hypothesized that the prevalence of molecular subtypes […]
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. ABSTRACT The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause […]
Low CSF 5-HIAA in Myoclonus Dystonia
Mov Disord. 2017 Nov;32(11):1647-1649. doi: 10.1002/mds.27117. Epub 2017 Sep 26. NO ABSTRACT PMID:28949039 | PMC:PMC5796435 | DOI:10.1002/mds.27117
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17. ABSTRACT Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinical subtypes and 13 genes known mutated in PCH. Here, […]
Should we implement population screening for fragile X?
Genet Med. 2017 Dec;19(12):1295-1299. doi: 10.1038/gim.2017.81. Epub 2017 Aug 3. NO ABSTRACT PMID:28771250 | DOI:10.1038/gim.2017.81
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. ABSTRACT The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by […]