4.7 Review

Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease

Takashi Miyajima et al.

Summary: In this study, neuronal cells derived from induced pluripotent stem cells (iPSCs) of Fabry disease patients showed no cellular damage or morphological changes, and exhibited no accumulation of Gb3, suggesting that more in vivo-like environments are needed to reproduce disease-specific features in iPSC-derived neurons.

JOURNAL OF INHERITED METABOLIC DISEASE (2023)

Review Cell Biology

The Roles of Serotonin in Neuropsychiatric Disorders

Mahsa Pourhamzeh et al.

Summary: The serotonergic system plays a crucial role in regulating various functions in the central nervous system and gastrointestinal tract. Deficiencies in this system can lead to pathological conditions like depression and schizophrenia. Research highlights the involvement of serotonin in neuropsychiatric disorders and discusses potential new therapies based on molecular mechanisms.

CELLULAR AND MOLECULAR NEUROBIOLOGY (2022)

Article Medicine, Research & Experimental

Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A

Maria Grazia Biferi et al.

Summary: This study tested a novel adeno-associated viral vector for treating Fabry disease, showing that the vector can induce alpha-galactosidase A activity in tissues and achieve the expected therapeutic effects in animal models.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2021)

Review Anesthesiology

Fabry disease pain: patient and preclinical parallels

Anthony J. Burand et al.

Summary: Severe neuropathic pain is a prominent feature of Fabry disease, impacting patients' quality of life significantly. Despite existing treatment options, pain persists in many patients, with unclear understanding of the mechanisms underlying the pain.
Article Neurosciences

Systematic Review: Quantitative Susceptibility Mapping (QSM) of Brain Iron Profile in Neurodegenerative Diseases

Parsa Ravanfar et al.

Summary: Iron has been increasingly implicated in the pathology of neurodegenerative diseases. The development of QSM technique allows for more comprehensive investigation of iron distribution in the brain. Existing studies have shown increased magnetic susceptibility in brain regions associated with different neurodegenerative disorders, indicating potential for QSM as a promising tool in investigating neurodegeneration.

FRONTIERS IN NEUROSCIENCE (2021)

Review Medicine, General & Internal

Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

Clara Carnicer-Caceres et al.

Summary: Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene, leading to gradual accumulation of globotriaosylceramide in different tissues, which can induce multiorgan lesions, especially in the kidney, heart, and nervous system. Enzyme replacement therapy can delay disease progression, but early diagnosis remains a clinical challenge, prompting the search for biomarkers to detect and predict disease evolution.

JOURNAL OF CLINICAL MEDICINE (2021)

Article Biochemistry & Molecular Biology

Murine Models of Lysosomal Storage Diseases Exhibit Differences in Brain Protein Aggregation and Neuroinflammation

Jennifer Clarke et al.

Summary: Genetic, epidemiological, and experimental evidence suggest that lysosomal dysfunction is involved in Parkinson's disease and related synucleinopathies. Results from investigating multiple mouse models of lysosomal storage diseases show varying pathologies reminiscent of synucleinopathies, indicating a potential link between lysosomal dysregulation and specific brain region protein aggregation.

BIOMEDICINES (2021)

Review Behavioral Sciences

Where Dopaminergic and Cholinergic Systems Interact: A Gateway for Tuning Neurodegenerative Disorders

Marianne Amalric et al.

Summary: Historically, studies on neurodegenerative diseases have largely examined alterations in specific neuronal populations, but it is becoming increasingly clear that the integrity of multiple interconnected neuronal circuits regulates various brain activities in mammals. The dopaminergic and cholinergic systems play crucial roles in orchestrating cognitive and non-cognitive symptoms in PD and AD.

FRONTIERS IN BEHAVIORAL NEUROSCIENCE (2021)

Article Medicine, General & Internal

Attention Deficits and ADHD Symptoms in Adults with Fabry Disease-A Pilot Investigation

Nadia Ali et al.

Summary: This pilot study compared reported symptoms of attention-deficit/hyperactivity in adults with Fabry disease with normative control data, finding a higher prevalence of symptoms in Fabry disease patients. The study suggests that attention difficulties in Fabry disease patients are not solely explained by ADHD. Patients reporting symptoms were also more likely to report difficulties in adaptive functioning.

JOURNAL OF CLINICAL MEDICINE (2021)

Article Endocrinology & Metabolism

Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations

Patricia Varela et al.

Summary: Fabry disease is a rare genetic metabolic disorder with a wide range of symptoms, making diagnosis difficult. A novel GLA gene variant was found in four family members with neuropsychiatric symptoms, including depression or schizophrenia in two women and one man.

METABOLIC BRAIN DISEASE (2021)

Review Biochemistry & Molecular Biology

Progress in the understanding and treatment of Fabry disease

James J. Miller et al.

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2020)

Review Cell Biology

Lysosomes as dynamic regulators of cell and organismal homeostasis

Andrea Ballabio et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2020)

Article Clinical Neurology

Fabry Disease With Concomitant Lewy Body Disease

Kelly Del Tredici et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2020)

Review Medicine, General & Internal

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression

Camila Para et al.

JOURNAL OF CLINICAL MEDICINE (2020)

Article Neurosciences

Bridging the Gap Between Vessels and Nerves in Fabry Disease

Julia Forstenpointner et al.

FRONTIERS IN NEUROSCIENCE (2020)

Article Endocrinology & Metabolism

Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study

Simon Korver et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

Review Biochemistry & Molecular Biology

Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders

Alex E. Ryckman et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Editorial Material Clinical Neurology

The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders

Shani Blumenreich et al.

MOVEMENT DISORDERS (2020)

Review Biochemistry & Molecular Biology

Human iPSC-Based Models for the Development of Therapeutics Targeting Neurodegenerative Lysosomal Storage Diseases

Marco Luciani et al.

FRONTIERS IN MOLECULAR BIOSCIENCES (2020)

Review Biochemistry & Molecular Biology

Fundamentals of CNS energy metabolism and alterations in lysosomal storage diseases

Mary C. McKenna et al.

JOURNAL OF NEUROCHEMISTRY (2019)

Review Endocrinology & Metabolism

Synaptic energy metabolism and neuronal excitability, in sickness and health

Alfonso Oyarzabal et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

Article Neurosciences

Alpha galactosidase A activity in Parkinson's disease

R. N. Alcalay et al.

NEUROBIOLOGY OF DISEASE (2018)

Article Clinical Neurology

Striatonigral involvement in Fabry Disease: A quantitative and volumetric Magnetic Resonance Imaging study

Camilla Russo et al.

PARKINSONISM & RELATED DISORDERS (2018)

Article Neurosciences

Altered Gene Expression in Prefrontal Cortex of a Fabry Disease Mouse Model

Kai K. Kummer et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)

Article Clinical Neurology

Enzyme replacement therapy and white matter hyperintensity progression in Fabry disease

James D. Stefaniak et al.

NEUROLOGY (2018)

Article Clinical Neurology

Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?

Giuseppe Pontillo et al.

FRONTIERS IN NEUROLOGY (2018)

Article Clinical Neurology

Brain MRI findings in children and adolescents with Fabry disease

C. Marchesoni et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2018)

Article Medicine, General & Internal

Lysosomal storage diseases

Frances M. Platt et al.

NATURE REVIEWS DISEASE PRIMERS (2018)

Review Radiology, Nuclear Medicine & Medical Imaging

Neuroimaging in Fabry disease: current knowledge and future directions

Sirio Cocozza et al.

INSIGHTS INTO IMAGING (2018)

Article Urology & Nephrology

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Maarten Arends et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)

Article Medicine, General & Internal

Parkinson disease

Werner Poewe et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

Article Clinical Neurology

Redefining the Pulvinar Sign in Fabry Disease

S. Cocozza et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2017)

Review Cell Biology

Induced pluripotent stem cell models of lysosomal storage disorders

Daniel K. Borger et al.

DISEASE MODELS & MECHANISMS (2017)

Article Medicine, General & Internal

Central Neuropathic Pain Syndromes

James C. Watson et al.

MAYO CLINIC PROCEEDINGS (2016)

Article Endocrinology & Metabolism

Development of a model system for neuronal dysfunction in Fabry disease

Christine R. Kaneski et al.

MOLECULAR GENETICS AND METABOLISM (2016)

Article Clinical Neurology

Clinical prodromes of neurodegeneration in Anderson-Fabry disease

Matthias Loehle et al.

NEUROLOGY (2015)

Article Clinical Neurology

Enzyme Replacement Therapy Stabilized White Matter Lesion Progression in Fabry Disease

Andreas Fellgiebel et al.

CEREBROVASCULAR DISEASES (2014)

Review Endocrinology & Metabolism

Cognitive dysfunction and depression in Fabry disease: a systematic review

Fay E. Bolsover et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Article Endocrinology & Metabolism

Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease

Jean-Michel Itier et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Review Cell Biology

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

Carmine Settembre et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2013)

Meeting Abstract Pharmacology & Pharmacy

Neurological Manifestations and Psychological Aspects of Fabry Disease

Alessandro P. Burlina

CLINICAL THERAPEUTICS (2010)

Article Endocrinology & Metabolism

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study

Perri Segal et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Endocrinology & Metabolism

Psychological aspects of patients with Fabry disease

T. Wilson Crosbie et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

Article Genetics & Heredity

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey

A. Mehta et al.

JOURNAL OF MEDICAL GENETICS (2009)

Article Neurosciences

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice

L. G. Rodrigues et al.

NEUROBIOLOGY OF DISEASE (2009)

Article Clinical Neurology

Central nervous system involvement in Anderson Fabry disease: a clinical and MRI retrospective study

S. Buechner et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)

Article Pediatrics

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

Robert J. Hopkin et al.

PEDIATRIC RESEARCH (2008)

Article Endocrinology & Metabolism

Depression in adults with Fabry disease: A common and under-diagnosed problem

A. L. Cole et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Clinical Neurology

Voxel based analyses of diffusion tensor imaging in Fabry disease

J. Albrecht et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2007)

Review Clinical Neurology

Neurological manifestations in Fabry's disease

Anette T Moller et al.

NATURE CLINICAL PRACTICE NEUROLOGY (2007)

Article Pediatrics

Natural history of the cerebrovascular complications of Fabry disease

A Mehta et al.

ACTA PAEDIATRICA (2005)