Natalie Grant
A5008879729- Peroxisome Proliferator-Activated Receptors
- Biomedical Research and Pathophysiology
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Genetic Neurodegenerative Diseases
- Sympathectomy and Hyperhidrosis Treatments
- Eicosanoids and Hypertension Pharmacology
- Botulinum Toxin and Related Neurological Disorders
- Adipose Tissue and Metabolism
- Cancer Treatment and Pharmacology
- Neurological diseases and metabolism
- Adenosine and Purinergic Signaling
- Parkinson's Disease Mechanisms and Treatments
- Sleep and Wakefulness Research
- Neurogenetic and Muscular Disorders Research
- Restless Legs Syndrome Research
- Esophageal and GI Pathology
- Neuroblastoma Research and Treatments
- Adrenal Hormones and Disorders
- Nitric Oxide and Endothelin Effects
- Cardiovascular Function and Risk Factors
- Vitamin K Research Studies
- Prion Diseases and Protein Misfolding
- Genetics and Neurodevelopmental Disorders
Massachusetts General Hospital
2019-2025
Research Network (United States)
2023
National Hospital for Neurology and Neurosurgery
2023
University College London
2023
MaineGeneral Medical Center
2023
Harvard University
2019
Abstract Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role mitochondrial fusion. Mutations MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form CMT, with significant allelic heterogeneity. Previous, moderately-sized, cross sectional genotype-phenotype studies CMT2A have described phenotypic spectrum disease, but longitudinal natural history are lacking. In...
Abstract Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many reported remain classified as uncertain significance (VUS). In this large, international, multicentre study we prospectively collected demographic, clinical genetic data on patients CMT associated variants. Pathogenicity for each variant was defined...
X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease primarily affecting male patients. Female patients with ALD are also affected in adulthood, yet their course and symptom burden remain poorly defined. In this single-site study, we set out to characterize female individuals identify barriers faced by patient population. Adult genetically or biochemically confirmed were recruited through an outpatient specialty clinic advocacy group. We performed retrospective chart review...
Myopathy and dysphagia are common manifestations of nephropathic cystinosis, a rare autosomal recessive lysosomal storage disorder. We previously demonstrated that both the oral pharyngeal phases swallowing affected impact function quality life in patients. To better understand characterize impairment, we evaluated patients with cystinosis experiencing myopathy. prospectively who had participated prior clinical trial readiness study myopathy dysphagia, using functional outcomes video...
Abstract Background Nephropathic cystinosis is a lysosomal storage disorder. Patient survival years after renal transplantation has revealed systemic complications including distal myopathy and dysphagia. Methods We evaluated 20 adult patients with nephropathic using patient‐reported clinical outcome measures. Standard motor measures, video fluoroscopy swallow studies, tests of respiratory function were performed. also used Rasch analysis an initial survey to design 16‐item focused on upper...
Abstract Objective To characterize the prevalence, onset, and burden of urinary bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) to evaluate any sex differences symptom presentation. Methods In this retrospective prospective study, we performed medical record review (n = 103), analyzed results clinically indicated urodynamic testing 11), developed distributed a quality life (QOL) survey 59). Results Urinary symptoms are highly prevalent both males (75.0%) females (78.8%)...
X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease that causes progressive gait and balance problems. Leg discomfort, sleep disturbances, pain contribute to daily disability. We sought investigate the prevalence severity of Restless Legs Syndrome (RLS) in patients with ALD. administered questionnaires conducted diagnostic telephone interviews assess RLS severity. retrospectively extracted data from neurological examinations, functional measures, laboratory assessments....
Abstract Context Males with adrenoleukodystrophy (ALD) have an 80% lifetime risk of developing adrenal insufficiency (AI), which can be life-threatening when undetected. Newborn screening (NBS) for ALD has been implemented in 29 states, yet the impact NBS upon clinical management not reported. Objective To investigate whether implementation altered time to diagnosis AI children ALD. Design We conducted a retrospective medical chart review pediatric patients Setting All were seen...
Cryptogenic sensory peripheral neuropathy (CSPN) is highly prevalent and often disabling due to neuropathic pain. Metabolic syndrome its components increase risk. Diet exercise have shown promise but are limited by poor adherence.
Nephropathic cystinosis is a lysosomal storage disorder with late-onset systemic complications, such as myopathy and dysphagia. Currently employed outcome measures lack sensitivity responsiveness for dysphagia myopathy, limitation to clinical trial readiness.We evaluated 20 patients nephropathic in two visits over the course of year identify outcomes sensitive detect changes time. Patients also underwent an expiratory muscle strength training program assess any effects on aspiration...
Abstract Introduction/Aims Nephropathic cystinosis is a lysosomal storage disorder with known myopathic features, including dysphagia. Evaluation of oropharyngeal swallowing physiology can be standardized using the Modified Barium Swallow Impairment Profile (MBSImP), validated assessment tool used to analyze and rate across 17 distinct physiologic domains. Our objective was better characterize impairments in nephropathic MBSImP analysis. Methods We retrospectively evaluated 40 video...
Background: Gait and balance difficulties are among the most common clinical manifestations in adults with X-linked adrenoleukodystrophy, but little is known about contributions of sensory loss, motor dysfunction, postural control to gait dysfunction fall risk. Objective: To quantify deficits both males females adrenoleukodystrophy evaluate how environmental perturbations (moving surfaces visual surrounds) affect Methods: We assessed instability 44 adult patients 17 healthy controls using...
Abstract Background TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays role in transcription mediated by nuclear receptors and is known genetic cause of neurodevelopmental disease childhood (OMIM# 608628). Yet the developmental trajectory progression neurologic symptoms over time remains poorly understood. Methods We developed distributed survey to two closed Facebook groups devoted families patients with -related disorder. The consisted 14 subsections focused upon...
Thursday, April 30April 14, 2020Free AccessClinical Trial Readiness Study of Distal Myopathy and Dysphagia in Nephropathic Cystinosis (4807)Reza Sadjadi, Stacey Sullivan, Natalie Grant, Camille Corre, Nicholas Mello, William David, Florian EichlerAuthors Info & AffiliationsApril 2020 issue94 (15_supplement)https://doi.org/10.1212/WNL.94.15_supplement.4807 Letters to the Editor
Abstract Disclosure: J. Ramirez Alcantara: None. N. Grant: T.L. Stanley: Research Investigator; Self; Pfizer, Inc. F. Eichler: Consulting Fee; consultant to Alnylam, Autobahn, Ionis, Minoryx, Orchard, Origen, Poxel, Takeda Therapeutics,and Taysha Gene Therapies, is a Third Rock Ventures on rare neurological disorders. Grant Recipient; GLIA-CTN from National Institute of Neurological Disorders and Stroke (NINDS). Owner/Co-Owner; founder SwanBio Therapeutics. primary investigator (PI) ex vivo...
May 7, 2019April 9, 2019Free AccessAssessing the immediate effect of ground reaction ankle foot orthoses on balance in individuals with inherited neuropathies (P3.4-043)Katherine Burke, Keneth Cornell, Amy Swartz, Natalie Grant, Sabrina Paganoni, and Reza SadjadiAuthors Info & AffiliationsApril 2019 issue92 (15_supplement)https://doi.org/10.1212/WNL.92.15_supplement.P3.4-043 Letters to Editor