Mitochondrial disorders of the nervous system: Clinical, biochemical, and molecular genetic features

2002 ◽  
pp. 93-144 ◽  
Author(s):  
Dominic Thyagaraiani ◽  
Edward Byrne
Keyword(s):  
Nervous System ◽  
Molecular Genetic ◽  
Mitochondrial Disorders ◽  
Genetic Features

scholarly journals Primary Central Nervous System Lymphomas: A Diagnostic Overview of Key Histomorphologic, Immunophenotypic, and Genetic Features

Diagnostics ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 1076
Author(s):  
Marietya I. S. Lauw ◽  
Calixto-Hope G. Lucas ◽  
Robert S. Ohgami ◽  
Kwun Wah Wen
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Molecular Genetic ◽  
Central Nervous System Lymphoma ◽  
Great Majority ◽  
B Cell Lymphoma ◽  
Non Hodgkin Lymphoma ◽  
Genetic Features ◽  
The Central Nervous System ◽  
The Brain

Primary central nervous system lymphoma (PCNSL) is a rare form of extranodal non-Hodgkin lymphoma that primarily arises in the brain, spinal cord, leptomeninges, and vitreoretinal compartment of the eye. The term is sometimes used interchangeably with primary central nervous system diffuse large B-cell lymphoma (PCNS DLBCL) because DLBCL comprises a great majority (90–95%) of PCNSL. Although rare, other types of lymphomas can be seen in the central nervous system (CNS), and familiarity with these entities will help their recognition and further workup in order to establish the diagnosis. The latter is especially important in the case of PCNSL where procurement of diagnostic specimen is often challenging and yields scant tissue. In this review, we will discuss the most common types of primary lymphomas that can be seen in the CNS with emphasis on the diagnostic histomorphologic, immunophenotypic, and molecular genetic features. The differential diagnostic approach to these cases and potential pitfalls will also be discussed.

scholarly journals Serum biomarkers in primary mitochondrial disorders

2021 ◽  
Author(s):  
Kristin N Varhaug ◽  
Omar Hikmat ◽  
Hanne Linda Nakkestad ◽  
Christian A Vedeler ◽  
Laurence A Bindoff
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mitochondrial Disease ◽  
Central Nervous System Involvement ◽  
Mitochondrial Disorders ◽  
Serum Biomarkers ◽  
Fibroblast Growth Factor 21 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Mitochondrial Dna Deletion ◽  
Muscle Involvement

Abstract The aim of this study was to explore the utility of the serum biomarkers neurofilament light chain (NF-L), fibroblast growth factor 21 (FGF-21) and growth and differentiation factor 15 (GDF-15) in diagnosing primary mitochondrial disorders. We measured serum NF-L, FGF-21 and GDF-15 in 26 patients with a genetically proven mitochondrial disease. FGF-21 and GDF-15 were measured by enzyme-linked immunosorbent assay and NF-L with the Simoa assay. NF-L was highest in patients with multisystemic involvement that included the central nervous system such as those with the m.3242A>G mutation. Mean NF-L was also highest in patients with epilepsy versus those without (49.74 pg/ml versus 19.7 pg/ml (p = 0.015)), while FGF-21 and GDF-15 levels were highest in patients with prominent myopathy, such as those with single mitochondrial DNA deletion. Our results suggest that the combination of NF-L, FGF-21 and GDF-15 is useful in the diagnostic evaluation of mitochondrial disease. GDF-15 and FGF-21 identify those with muscle involvement while NF-L is a clear marker for central nervous system involvement independent of underlying mitochondrial pathology. Levels of NF-L appear to correlate with the degree of ongoing damage suggesting, therefore, that monitoring NF-L levels may provide prognostic information and a way of monitoring disease activity.

P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy

2010 ◽  
Vol 20 (9-10) ◽  
pp. 626
Author(s):  
A. D’Amico ◽  
S. Petrini ◽  
F. Fattori ◽  
M. Verardo ◽  
R. Boldrini ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Vacuolar Myopathy ◽  
Genetic Features ◽  
Rimmed Vacuolar Myopathy

MOLECULAR GENETIC STUDIES OF CENTRAL NERVOUS SYSTEM TUMORS

2020 ◽  
pp. 42-50
Author(s):  
B.B. Zhetpisbaev ◽  
A.Zh. Doskaliyev ◽  
M.P. Solodovnikov ◽  
A.B. Kasymova ◽  
N.I. Tursynov ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Molecular Genetic ◽  
Central Nervous System Tumors ◽  
Genetic Studies ◽  
Nervous System Tumors

Functional involvement of central nervous system in mitochondrial disorders

1997 ◽  
Vol 105 (3) ◽  
pp. 171-180 ◽  
Author(s):  
V. Di Lazzaro ◽  
D. Restuccia ◽  
S. Servidei ◽  
M. Valeriani ◽  
R. Nardone ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mitochondrial Disorders ◽  
Functional Involvement

scholarly journals Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

2001 ◽  
Vol 345 (5) ◽  
pp. 325-334 ◽  
Author(s):  
Richard C. Trembath ◽  
Jennifer R. Thomson ◽  
Rajiv D. Machado ◽  
Neil V. Morgan ◽  
Carl Atkinson ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Molecular Genetic ◽  
Genetic Features

Development of the Nervous System of Invertebrates

2018 ◽  
pp. 70-122
Author(s):  
Volker Hartenstein
Keyword(s):  
Nervous System ◽  
Molecular Genetic ◽  
Early Embryo ◽  
Nerve Fibers ◽  
Model Systems ◽  
Animal Phyla ◽  
Invertebrate Animals ◽  
Genetic Mechanisms ◽  
And Migration ◽  
Complex Architecture

The complex architecture of the nervous system is the result of a stereotyped pattern of proliferation and migration of neural progenitors in the early embryo, followed by the outgrowth of nerve fibers along rigidly controlled pathways, and the formation of synaptic connections between specific neurons during later stages. Detailed studies of these events in several experimentally amenable model systems indicated that many of the genetic mechanisms involved are highly conserved. This realization, in conjunction with new molecular-genetic techniques, has led to a surge in comparative neurodevelopmental research covering a wide variety of animal phyla over the past two decades. This chapter attempts to provide an overview of the diverse neural architectures that one encounters among invertebrate animals, and the developmental steps shaping these architectures.

Neuropsychiatry of neurometabolic, neuroendocrine, and mitochondrial disorders

2020 ◽  
pp. 309-322
Author(s):  
Mark Walterfang ◽  
Ramon Mocellin ◽  
Dennis Velakoulis
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Psychiatric Illness ◽  
Mitochondrial Disorders ◽  
Endocrine Function ◽  
Endocrine Disorders ◽  
Endocrine Tumours ◽  
Neurometabolic Disorders ◽  
The Brain

This chapter examines the role of neurometabolic, neuroendocrine, and mitochondrial disorders in causing neuropsychiatric syndromes. It examines how disorders of cellular metabolic processes, particularly those that affect the brain, can result in major psychiatric syndromes and the over-representation of some neurometabolic disorders in psychiatric illness. It also discusses a range of endocrine disorders, particularly disorders of increased or reduced endocrine function and endocrine tumours, in producing psychiatric syndromes. The chapter also reviews the role of mitochondrial disorders in disrupting central nervous system processes and metabolism, and how some mitochondrial disorders result in psychiatric illness.

Neuronal Growth and Trophic Factors

The Neuron ◽  
2015 ◽  
pp. 353-386
Author(s):  
Irwin B. Levitan ◽  
Leonard K. Kaczmarek
Keyword(s):  
Nervous System ◽  
Transcription Factor ◽  
Growth Factors ◽  
Neural Development ◽  
Molecular Genetic ◽  
Sympathetic Neuron ◽  
Mechanisms Of Action ◽  
Trophic Factors ◽  
Developmental Factors ◽  
System P

Neural development requires the participation of growth factors that regulate neuronal determination, proliferation, migration, and differentiation. Molecular genetic approaches using Drosophila, as well as other creatures whose genetics is well understood, have provided insights into the mechanisms of action of some of these developmental factors. Other factors are soluble and are secreted by nearby cells or other neurons. These include neurotrophins such as NGF and BDNF, cytokines such as CNTF, as well as GDNF and steroid hormones. Current research aims to identify key growth factors required for producing different types of neurons, and different patterns of transcription factor activated by different combinations of these factors. This knowledge may eventually allow medical therapies to convert a stem cell into a sympathetic neuron, a motor neuron, or any one of the thousands of other types of neurons that make up a mature nervous system.

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