Heredodegenerative Disorders, Nervous System - Genetics
Research News and Information

Monday, November 23, 2009

Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease.

30 May 2009 This study characterized the therapeutic benefits of combining hematogenous cell replacement with lentiviral-mediated gene transfer of galactosylceramidase (GALC) in Twitcher mice, a bona fide model for Krabbe disease. Bone marrow cells and ... Read more...

Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review.

29 Apr 2009 Megalencephalic leukoencephalopathy with subcortical cysts (MLC) causes early-onset, slowly progressive central nervous system white matter disease, macrocephaly, and later cognitive and motor decline. We describe brain structure in a patient with ... Read more...

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

29 Mar 2009 Mitochondria are essential for cellular bioenergetics by way of energy production in the form of ATP through the process of oxidative phosphorylation. This crucial task is executed by five multi-protein complexes of which mitochondrial ... Read more...

Latest indexed articles for 'Heredodegenerative Disorders, Nervous System - Genetics'

These are the very latest articles for this heading:

• Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease. 30 May 2009
• Editorial. 'The muddle of embodiment'. 30 May 2009
• Late-onset HMSN 2: further evidence of genetic heterogeneity. 3 May 2009
• A 63-year-old woman with urinary incontinence and progressive gait disorder. 3 May 2009
• Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. 29 Apr 2009
• Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. 29 Mar 2009
• HSP70 interacting protein prevents the accumulation of inclusions in polyglutamine disease. 30 Jan 2009
• The neuronal expression of MYC causes a neurodegenerative phenotype in a novel transgenic mouse. 20 Jan 2009
• Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? 13 Jan 2009
• Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. 16 Dec 2008
• Testing for fragile X gene mutations throughout the life span. 24 Nov 2008
• Animal models of polyglutamine diseases and therapeutic approaches. 26 Oct 2008
• Mechanisms of RNA-mediated disease. 26 Oct 2008
• Unstable nucleotide repeat minireview series: a molecular biography of unstable repeat disorders. 26 Oct 2008
• Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. 23 Oct 2008
• Human receptor for activated protein kinase C1 associates with polyglutamine aggregates and modulates polyglutamine toxicity. 19 Oct 2008
• Meeting DNA palindromes head-to-head. 29 Sep 2008
• The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection. 29 Sep 2008
• [The advances in research on phosphorylation of polyglutamine disease] 30 Jul 2008
• Functional genomics approaches to neurodegenerative diseases. 28 Jul 2008

See a longer list of these articles.

Technical information about 'Heredodegenerative Disorders, Nervous System'

Definition: Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.

Descriptor UI: D020271

Alternative terms: Heredodegenerative Disorders, Nervous System; Degenerative Hereditary Diseases, Nervous System; Degenerative Hereditary Disorders, Nervous System; Hereditary Diseases, Neurodegenerative; Disease, Neurodegenerative Hereditary; Diseases, Neurodegenerative Hereditary; Hereditary Disease, Neurodegenerative; Neurodegenerative Hereditary Disease; Neurodegenerative Hereditary Diseases; Neurodegenerative Diseases, Hereditary; Disease, Hereditary Neurodegenerative; Diseases, Hereditary Neurodegenerative; Hereditary Neurodegenerative Disease; Neurodegenerative Disease, Hereditary; Hereditary-Degenerative Disorders, Nervous System; Hereditary Degenerative Disorders, Nervous System; Nervous System Degenerative Hereditary Diseases; Nervous System Diseases, Degenerative, Hereditary; Nervous System Hereditary Degenerative Diseases; Degenerative Disease, Nervous System, Hereditary; Hereditary Neurodegenerative Diseases;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C10.574.500; C16.320.400;

History Note: 2000