Database : MEDLINE
Search on : giant and axonal and neuropathy [Words]
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[PMID]: 29249183
[Au] Autor:Hardcastle N; Boulis NM; Federici T
[Ad] Address:a Department of Neurosurgery , Emory University , Atlanta , GA , USA.
[Ti] Title:AAV gene delivery to the spinal cord: serotypes, methods, candidate diseases, and clinical trials.
[So] Source:Expert Opin Biol Ther;18(3):293-307, 2018 Mar.
[Is] ISSN:1744-7682
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Adeno-associated viral (AAV) vector-mediated gene delivery to the spinal cord has finally entered the pathway towards regulatory approval. Phase 1 clinical trials using AAV gene therapy for pediatric disorders - spinal muscular atrophy (SMA) and giant axonal neuropathy (GAN) - are now underway. Areas covered: This review addresses the latest progress in the field of AAV gene delivery to the spinal cord, particularly focusing on the most prominent AAV serotypes and delivery methodologies to the spinal cord. Candidate diseases and scaling up experiments in large animals are also discussed. Expert opinion: Intravenous (IV) and intrathecal (IT) deliveries seem to undoubtedly be the preferred routes of administration for diffuse spinal cord delivery of therapeutic AAV vectors that can cross the blood-brain barrier (BBB) and correct inherited genetic disorders. Conversely, intraparenchymal delivery is still an undervalued but very viable approach for segmental therapy in afflictions such as ALS or Pompe Disease as a means to prevent respiratory dysfunction.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review
[do] DOI:10.1080/14712598.2018.1416089

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[PMID]: 28495047
[Au] Autor:Fu J; Dai S; Lu Y; Wu R; Wang Z; Yuan Y; Lv H
[Ad] Address:Department of Neurology, First Hospital, Peking University, Beijing 100034, China.
[Ti] Title:Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.
[So] Source:Neuromuscul Disord;27(8):760-765, 2017 Aug.
[Is] ISSN:1873-2364
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs. Motor nerve conduction velocities of the median nerve were within normal ranges, and compound muscle action potential ranged from 1.5 to 3.8 mV. Sural nerve biopsy revealed loss of large myelinated fibers with regeneration clusters and a few onion bulbs. Electron microscopy showed mitochondrial aggregation in both axons and Schwann cells, and neurofilament accumulation in giant unmyelinated fibers. The p.H256R mutation was found in all patients with GDAP1 compound heterozygous mutations, suggesting that it might be a common mutation in Chinese patients. This study observed no difference in the disease onset, phenotype severity, electrophysiological findings, or pathological changes between AR-CMT2K and AD-CMT2K patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170717
[Lr] Last revision date:170717
[St] Status:In-Process

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[PMID]: 28424304
[Au] Autor:Soomro A; Alsop RJ; Negishi A; Kreplak L; Fudge D; Kuczmarski ER; Goldman RD; Rheinstädter MC
[Ad] Address:Department of Physics and Astronomy, McMaster University, Hamilton, Ontario, Canada.
[Ti] Title:Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.
[So] Source:J R Soc Interface;14(129), 2017 Apr.
[Is] ISSN:1742-5662
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, ataxia, seizures, intellectual disability, pale skin and often curled hair. We used X-ray diffraction and tensile testing to determine potential changes to the structure of keratin intermediate filaments (IFs) in the hair of patients with GAN. A statistically significant decrease in the 47 and the 27 Å diffraction signals were observed. Tensile tests determined that the hair was slightly stiffer, stronger and more extensible in GAN patients. These results suggest that the structure of keratin IFs in hair is altered in GAN, and the findings are compatible with an increased positional disorder of the keratin tetramers within the hair fibres.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 170509
[Lr] Last revision date:170509
[St] Status:In-Process

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[PMID]: 28348263
[Au] Autor:Babar MU; Hakeem H; Khan S
[Ad] Address:Department of Neurology, Aga Khan University Hospital, Karachi, Pakistan.
[Ti] Title:Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria.
[So] Source:BMJ Case Rep;2017, 2017 Mar 27.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:A man aged 22 years misdiagnosed as suffering from recurrent abdominal tuberculosis, in view of recurrent abdominal pain was treated for abdominal tuberculosis in the past. The patient was prescribed antituberculous therapy. 2 months after starting treatment, he developed progressive weakness of all 4 limbs. Electrodiagnostic examination revealed an acute severe motor axonal neuropathy. Further workup revealed elevated porphyrin precursors in urine.
[Mh] MeSH terms primary: Antitubercular Agents/adverse effects
Giant Axonal Neuropathy/chemically induced
Porphyria, Acute Intermittent/diagnosis
Tuberculosis/diagnosis
[Mh] MeSH terms secundary: Abdominal Pain/etiology
Diagnostic Errors
Humans
Male
Tuberculosis/drug therapy
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Antitubercular Agents)
[Em] Entry month:1705
[Cu] Class update date: 170512
[Lr] Last revision date:170512
[Js] Journal subset:IM
[Da] Date of entry for processing:170329
[St] Status:MEDLINE

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[PMID]: 28300918
[Au] Autor:Almeida HL; Garcias G; Silva RM; Batista SL; Pasetto F
[Ad] Address:Universidade Federal de Pelotas (UFPel) - Pelotas (RS), Brazil.
[Ti] Title:Pili canaliculi as manifestation of giant axonal neuropathy.
[So] Source:An Bras Dermatol;91(5 suppl 1):125-127, 2016 Sep-Oct.
[Is] ISSN:1806-4841
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.
[Mh] MeSH terms primary: Giant Axonal Neuropathy/pathology
Hair Diseases/pathology
[Mh] MeSH terms secundary: Child
Fatal Outcome
Female
Giant Axonal Neuropathy/complications
Hair/pathology
Hair Diseases/genetics
Humans
Microscopy, Electron, Scanning
Mutation
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1707
[Cu] Class update date: 170726
[Lr] Last revision date:170726
[Js] Journal subset:IM
[Da] Date of entry for processing:170317
[St] Status:MEDLINE

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[PMID]: 27852232
[Au] Autor:Aharoni S; Barwick KE; Straussberg R; Harlalka GV; Nevo Y; Chioza BA; McEntagart MM; Mimouni-Bloch A; Weedon M; Crosby AH
[Ad] Address:Department of Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[Ti] Title:Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
[So] Source:BMC Med Genet;17(1):82, 2016 Nov 16.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade. Distinctive phenotypic features are the presence of "kinky" hair and long eyelashes. The genetic basis of the disease has been well established, with over 40 associated mutations identified in the gene GAN, encoding the BTB-KELCH protein gigaxonin, involved in intermediate filament regulation. METHODS: An Illumina Human CytoSNP-12 array followed by whole exome sequence analysis was used to identify the disease associated gene mutation in a large consanguineous family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT-2) from which all but one affected member had straight hair. RESULTS: Here we report the identification of a novel GAN missense mutation underlying the CMT-2 phenotype observed in this family. Although milder forms of GAN, with and without the presence of kinky hair have been reported previously, a phenotype distinct from that was investigated in this study. All family members lacked common features of GAN, including ataxia, nystagmus, intellectual disability, seizures, and central nervous system involvement. CONCLUSIONS: Our findings broaden the spectrum of phenotypes associated with GAN mutations and emphasize a need to proceed with caution when providing families with diagnostic or prognostic information based on either clinical or genetic findings alone.
[Mh] MeSH terms primary: Charcot-Marie-Tooth Disease/genetics
Consanguinity
Cytoskeletal Proteins/genetics
Mutation, Missense/genetics
[Mh] MeSH terms secundary: Adult
Alleles
Animals
Brain/diagnostic imaging
Charcot-Marie-Tooth Disease/pathology
Child
Child, Preschool
Electrophysiological Phenomena
Genotype
Humans
Israel
Male
Molecular Sequence Data
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sequence Alignment
Twins, Dizygotic
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Cytoskeletal Proteins); 0 (GAN protein, human)
[Em] Entry month:1705
[Cu] Class update date: 170922
[Lr] Last revision date:170922
[Js] Journal subset:IM
[Da] Date of entry for processing:161118
[St] Status:MEDLINE

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[PMID]: 27807187
[Au] Autor:Naddaf E; Dispenzieri A; Mandrekar J; Mauermann ML
[Ad] Address:From the Departments of Neurology (E.N., M.L.M.), Internal Medicine (A.D.), and Medicine (J.M.), Mayo Clinic, Rochester, MN.
[Ti] Title:Clinical spectrum of Castleman disease-associated neuropathy.
[So] Source:Neurology;87(23):2457-2462, 2016 Dec 06.
[Is] ISSN:1526-632X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To define the peripheral neuropathy phenotypes associated with Castleman disease. METHODS: We conducted a retrospective chart review for patients with biopsy-proven Castleman disease evaluated between January 2003 and December 2014. Patients with associated peripheral neuropathy were identified and divided into 2 groups: those with Castleman disease without POEMS syndrome (CD-PN) and those with Castleman disease with POEMS syndrome (CD-POEMS). We used a cohort of patients with POEMS as controls. Clinical, electrodiagnostic, and laboratory characteristics were collected and compared among patient subgroups. RESULTS: There were 7 patients with CD-PN, 20 with CD-POEMS, and 122 with POEMS. Patients with CD-PN had the mildest neuropathy characterized by predominant sensory symptoms with no pain and mild distal sensory deficits (median Neuropathy Impairment Score of 7 points). Although both patients with CD-POEMS and patients with POEMS had a severe sensory and motor neuropathy, patients with CD-POEMS were less affected (median Neuropathy Impairment Score of 33 and 66 points, respectively). The degree of severity was also reflected on electrodiagnostic testing in which patients with CD-PN demonstrated a mild degree of axonal loss, followed by patients with CD-POEMS and then those with POEMS. Demyelinating features, defined by European Federation of Neurologic Societies/Peripheral Nerve Society criteria, were present in 43% of the CD-PN, 78% of the CD-POEMS, and 86% of the POEMS group. CONCLUSION: There is a spectrum of demyelinating peripheral neuropathies associated with Castleman disease. CD-PN is sensory predominant and is the mildest phenotype, whereas CD-POEMS is a more severe sensory and motor neuropathy. Compared to the POEMS cohort, those with CD-POEMS neuropathy have a similar but less severe phenotype. Whether these patients respond differently to treatment deserves further study.
[Mh] MeSH terms primary: Castleman Disease/diagnosis
Castleman Disease/physiopathology
POEMS Syndrome/diagnosis
POEMS Syndrome/physiopathology
Peripheral Nervous System Diseases/diagnosis
Peripheral Nervous System Diseases/physiopathology
[Mh] MeSH terms secundary: Adult
Aged
Biomarkers/blood
Castleman Disease/complications
Castleman Disease/pathology
Cohort Studies
Electromyography
Female
Humans
Male
Middle Aged
Neural Conduction
Neurologic Examination
POEMS Syndrome/complications
POEMS Syndrome/pathology
Peripheral Nervous System Diseases/complications
Peripheral Nervous System Diseases/pathology
Phenotype
Severity of Illness Index
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers)
[Em] Entry month:1705
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:161104
[St] Status:MEDLINE

  8 / 272 MEDLINE  
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[PMID]: 27798231
[Au] Autor:Lin NH; Huang YS; Opal P; Goldman RD; Messing A; Perng MD
[Ad] Address:Institute of Molecular Medicine, College of Life Sciences, National Tsing Hua University, Hsinchu 300, Taiwan.
[Ti] Title:The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.
[So] Source:Mol Biol Cell;27(25):3980-3990, 2016 Dec 15.
[Is] ISSN:1939-4586
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Alexander disease (AxD) is a primary genetic disorder of astrocytes caused by dominant mutations in the gene encoding the intermediate filament (IF) protein GFAP. This disease is characterized by excessive accumulation of GFAP, known as Rosenthal fibers, within astrocytes. Abnormal GFAP aggregation also occurs in giant axon neuropathy (GAN), which is caused by recessive mutations in the gene encoding gigaxonin. Given that one of the functions of gigaxonin is to facilitate proteasomal degradation of several IF proteins, we sought to determine whether gigaxonin is involved in the degradation of GFAP. Using a lentiviral transduction system, we demonstrated that gigaxonin levels influence the degradation of GFAP in primary astrocytes and in cell lines that express this IF protein. Gigaxonin was similarly involved in the degradation of some but not all AxD-associated GFAP mutants. In addition, gigaxonin directly bound to GFAP, and inhibition of proteasome reversed the clearance of GFAP in cells achieved by overexpressing gigaxonin. These studies identify gigaxonin as an important factor that targets GFAP for degradation through the proteasome pathway. Our findings provide a critical foundation for future studies aimed at reducing or reversing pathological accumulation of GFAP as a potential therapeutic strategy for AxD and related diseases.
[Mh] MeSH terms primary: Cytoskeletal Proteins/metabolism
Glial Fibrillary Acidic Protein/metabolism
[Mh] MeSH terms secundary: Alexander Disease/metabolism
Astrocytes/metabolism
Astrocytes/physiology
Cells, Cultured
Cytoskeletal Proteins/genetics
Giant Axonal Neuropathy/genetics
Giant Axonal Neuropathy/metabolism
Glial Fibrillary Acidic Protein/genetics
Humans
Mutation
Proteasome Endopeptidase Complex/metabolism
Proteolysis
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Cytoskeletal Proteins); 0 (GAN protein, human); 0 (Glial Fibrillary Acidic Protein); EC 3.4.25.1 (Proteasome Endopeptidase Complex)
[Em] Entry month:1709
[Cu] Class update date: 170919
[Lr] Last revision date:170919
[Js] Journal subset:IM
[Da] Date of entry for processing:161101
[St] Status:MEDLINE

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[PMID]: 27514609
[Au] Autor:Armao D; Bailey RM; Bouldin TW; Kim Y; Gray SJ
[Ad] Address:Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[Ti] Title:Erratum to: Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease.
[So] Source:Clin Auton Res;26(6):467, 2016 Dec.
[Is] ISSN:1619-1560
[Cp] Country of publication:Germany
[La] Language:eng
[Pt] Publication type:PUBLISHED ERRATUM
[Em] Entry month:1608
[Cu] Class update date: 161114
[Lr] Last revision date:161114
[St] Status:In-Data-Review

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[PMID]: 27369358
[Au] Autor:Armao D; Bailey RM; Bouldin TW; Kim Y; Gray SJ
[Ad] Address:Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[Ti] Title:Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease.
[So] Source:Clin Auton Res;26(4):307-13, 2016 Aug.
[Is] ISSN:1619-1560
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:PURPOSE: Giant axonal neuropathy (GAN) is an inherited severe sensorimotor neuropathy. The aim of this research was to investigate the neuropathologic features and clinical autonomic nervous system (ANS) phenotype in two GAN knockout (KO) mouse models. Little is known about ANS involvement in GAN in humans, but autonomic signs and symptoms are commonly reported in early childhood. METHODS: Routine histology and immunohistochemistry was performed on GAN KO mouse specimens taken at various ages. Enteric dysfunction was assessed by quantifying the frequency, weight, and water content of defecation in GAN KO mice. RESULTS: Histological examination of the enteric, parasympathetic and sympathetic ANS of GAN KO mice revealed pronounced and widespread neuronal perikaryal intermediate filament inclusions. These neuronal inclusions served as an easily identifiable, early marker of GAN in young GAN KO mice. Functional studies identified an age-dependent alteration in fecal weight and defecation frequency in GAN KO mice. CONCLUSIONS: For the first time in the GAN KO mouse model, we described the early, pronounced and widespread neuropathologic features involving the ANS. In addition, we provided evidence for a clinical autonomic phenotype in GAN KO mice, reflected in abnormal gastrointestinal function. These findings in GAN KO mice suggest that consideration should be given to ANS involvement in human GAN, especially when considering treatments and patient care.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1607
[Cu] Class update date: 170801
[Lr] Last revision date:170801
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1007/s10286-016-0365-7


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