NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results [0.03%]
普勒汉-麦德美综合征患儿和青少年使用NNZ-2591的单组、开放标签II期临床试验结果
Ann M Neumeyer,Siddharth Srivastava,J Lloyd Holder et al.
Ann M Neumeyer et al.
Background and objectives: Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder with no currently approved treatments. NNZ-2591, a synthetic analog of the insulin-like growth factor 1 metabolite cy...
Filippo Manti,Giacomina Ricciardi,Francesca Nardecchia et al.
Filippo Manti et al.
Background and objectives: Autosomal recessive DNAJC12 disease, the most recently identified disorder of biogenic amine synthesis, presents with a broad clinical spectrum and variable outcomes, ranging from asymptomatic p...
Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy [0.03%]
HSPB8肌病和远端运动神经病变的分子和病理谱系扩展
Brendan Nicholas Putko,Eric J Sorenson,Gaofeng Cui et al.
Brendan Nicholas Putko et al.
Objectives: HSPB8 variants cause myopathy, distal motor neuropathy, and Charcot-Marie-Tooth disease. We describe 2 patients who expand the molecular and pathologic spectrum of HSPB8 disorder. ...
Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome [0.03%]
ITPR1杂合子变异的早期儿童表现形式不仅限于先天性共济失调和吉莱斯皮综合征
Lara E Terry,Holly Dubbs,Kelly H Markwalter et al.
Lara E Terry et al.
Background and objectives: Heterozygous ITPR1 variants have been previously linked to multiple human disease phenotypes, including congenital ataxia and Gillespie syndrome. Previous reports have described potential genoty...
DEGS1-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature [0.03%]
DEGS1相关的脱髓鞘性白质营养不良：一个家族的四例报道及文献复习
Mark Grinberg,Breanne Dale,Rajesh Ramachandrannair et al.
Mark Grinberg et al.
Objectives: DEGS1-related leukodystrophy has been described in 33 individuals to date with varying degrees of neurologic symptoms and atrophy/hypomyelination on MRI brain. We describe a family of 4 individuals with DEGS1-...
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing [0.03%]
通过全基因组测序和RNA测序鉴定线粒体NDUFA3内含子突变为利克病的致病原因
Kohta Nakamura,Yoshihito Kishita,Ayumu Sugiura et al.
Kohta Nakamura et al.
Background and objectives: Leigh syndrome is an important manifestation of childhood-onset primary mitochondrial disease. Panel sequencing and whole exome sequencing are cost-effective for diagnosing mitochondrial disease...
Joana Damásio,Mariana Santos,Sara Costa et al.
Joana Damásio et al.
Background and objectives: Hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are rare neurologic disorders that often represent opposite ends of a shared clinical spectrum. Spastic ataxia, defined...
Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape [0.03%]
儿童及青年人单基因性神经炎症表型模拟疾病：不断发展的诊疗现状
Ayush Gupta,Dhwani Sahjwani,Ilana Kahn et al.
Ayush Gupta et al.
A recent explosion in genomic testing has led to the identification of several genetic disorders that mimic CNS-specific autoimmune disorders. Such monogenic disorders, although rare, represent a diagnostic challenge because of their divers...
Henriette V F Senghor,Raúl Domínguez Rubio,Carla Marco et al.
Henriette V F Senghor et al.
Background and objectives: SYNE1 deficiency is an autosomal recessive disorder with a broad phenotypic spectrum, most commonly presenting as adult-onset cerebellar ataxia with or without motor neuron dysfunction. We aimed...
Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies [0.03%]
寻找额外的致病突变以解释PMP22相关神经病变的变异程度
Barbara W van Paassen,Camiel Verhamme,Fred van Ruissen et al.
Barbara W van Paassen et al.
Background and objectives: The aim of this study was to investigate whether the considerable phenotypic variation in Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies...