nervous system heredodegenerative disorders

Summary

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

Top Publications

  1. Teijido O, MARTINEZ A, Pusch M, Zorzano A, Soriano E, del Río J, et al. Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. Hum Mol Genet. 2004;13:2581-94 pubmed
    ..In summary, this study provides an explanation as to why mutations in MLC1 provoke the disease and points to a possible therapy for some patients...
  2. Kleppa L, Kanavin Ø, Klungland A, Strømme P. A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. 2007;145:1397-406 pubmed
    ..IVS6-1G>A results in a new 28 amino acid C-terminus and premature termination of the CSA protein (G184DFs28X). A review of the CSA protein and the 10 known CSA mutations is also presented...
  3. Sorbi S, Forleo P, Tedde A, Cellini E, Ciantelli M, Bagnoli S, et al. Genetic risk factors in familial Alzheimer's disease. Mech Ageing Dev. 2001;122:1951-60 pubmed
  4. Basel Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, et al. Infantile bilateral striatal necrosis maps to chromosome 19q. Neurology. 2004;62:87-90 pubmed
    ..Autosomal recessive IBSN is characterized clinically by developmental arrest beginning at age 7 to 15 months, dysphagia, choreoathetosis, pendular nystagmus and optic atrophy, and severe progressive atrophy of the basal ganglia on MRI...
  5. Choi J, Ryu J, Kim H, Park S, Bae K, Kang S, et al. Co-chaperone CHIP promotes aggregation of ataxin-1. Mol Cell Neurosci. 2007;34:69-79 pubmed
    ..Our findings suggest that the role of CHIP in aggregation of polyQ proteins greatly varies depending on the context of full-length polyQ proteins...
  6. Bohr V, Ottersen O, Tønjum T. Genome instability and DNA repair in brain, ageing and neurological disease. Neuroscience. 2007;145:1183-6 pubmed
  7. Castellano Chiodo D, DiRocco M, Gandolfo C, Morana G, Buzzi D, Rossi A. Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 2007;38:154-6 pubmed
    ..We report on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a neurodegenerative storage disorder...
  8. Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, et al. Molecular genetics and biomarkers of polyglutamine diseases. Curr Mol Med. 2008;8:221-34 pubmed
    ..To optimize "proof of concept", the process for testing candidate therapies in humans, it is of importance to identify biomarkers which can be used as surrogate endpoints in clinical trials for polyglutamine diseases...
  9. Shao J, Diamond M. Polyglutamine diseases: emerging concepts in pathogenesis and therapy. Hum Mol Genet. 2007;16 Spec No. 2:R115-23 pubmed
    ..Therapeutic strategies include counteracting cellular perturbations and direct targeting of polyglutamine protein expression, cleavage or conformation...

More Information

Publications62

  1. Boor I, Nagtegaal M, Kamphorst W, van der Valk P, Pronk J, van Horssen J, et al. MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathol. 2007;114:403-10 pubmed
    ..We demonstrated a direct protein interaction between MLC1 and Kir4.1. From these results we conclude that MLC1 is associated with the DGC at astrocytic endfeet...
  2. Jasinska A, Michlewski G, de Mezer M, Sobczak K, Kozlowski P, Napierala M, et al. Structures of trinucleotide repeats in human transcripts and their functional implications. Nucleic Acids Res. 2003;31:5463-8 pubmed
    ..Based on this knowledge, we discuss the putative wider role of triplet repeat RNA hairpins in human diseases. A hypothetical model is proposed in which long normal RNA hairpins formed by the repeats may also be involved in pathogenesis...
  3. Li J, Ghandour K, Radovanovic D, Radovanovic D, Shy R, Krajewski K, et al. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol. 2007;64:974-8 pubmed
    ..Whether any mutation within the coding region of the PMP22 gene ultimately causes HNPP by reducing the amount of peripheral myelin protein 22 (PMP22) expressed in myelin is also unknown...
  4. Gnerer J, Kreber R, Ganetzky B. wasted away, a Drosophila mutation in triosephosphate isomerase, causes paralysis, neurodegeneration, and early death. Proc Natl Acad Sci U S A. 2006;103:14987-93 pubmed
    ..Our results highlight an essential protective role of Tpi and support the idea that advanced glycation end products may also contribute to pathogenesis of other neurological disorders...
  5. Bradshaw C, Davis R, Shrimpton A, Holohan P, Rea C, Fieglin D, et al. Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies. Arch Neurol. 2001;58:1429-34 pubmed
    ..The bodies are distributed throughout the cerebral hemispheres but are significantly more numerous in the cortex and the substantia nigra. We have named the disease familial encephalopathy with neuroserpin inclusion bodies (FENIB)...
  6. Richards F. Maturity of judgement in decision making for predictive testing for nontreatable adult-onset neurogenetic conditions: a case against predictive testing of minors. Clin Genet. 2006;70:396-401 pubmed
    ..Further research on assessment of maturity will assist with reaching a consensus on this issue...
  7. Avila R, Inouye H, Baek R, Yin X, Trapp B, Feltri M, et al. Structure and stability of internodal myelin in mouse models of hereditary neuropathy. J Neuropathol Exp Neurol. 2005;64:976-90 pubmed
    ..Our findings demonstrate that diffraction can provide a quantitative basis for understanding, at a molecular level, the membrane packing defects that occur in internodal myelin in demyelinating peripheral neuropathies...
  8. Cleaver J. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer. 2005;5:564-73 pubmed
    ..Complex clinical phenotypes might therefore result from unanticipated effects on other genes and proteins...
  9. Brooks P. DNA repair in neural cells: basic science and clinical implications. Mutat Res. 2002;509:93-108 pubmed
  10. Bayrak A, Battaloglu E, Turker H, Baris I, Oztas G. Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: a case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade. Brain Dev. 2009;31:445-8 pubmed publisher
    ..We present the case of a 6-year-old patient to draw attention to the possibility of HNPP attacks in the first decade and the importance of detailed electrophysiological examination...
  11. Seemanova E. [Syndromes and diseases caused by mutations of trinucleotide expansions]. Cas Lek Cesk. 2002;141:503-7 pubmed
    ..A good understanding of their special properties is necessary for efficient interdisciplinar collaboration of medical teams taking care for these patients and their families...
  12. Dahl A, Skjeldal O, Simensen A, Dalen H, Bråthen T, Ahlvin P, et al. [Treatment of patients with neuromuscular disease in a warm climate]. Tidsskr Nor Laegeforen. 2004;124:1795-8 pubmed
    ..Several patient groups request treatment in a warm climate, in spite of the fact that the effects of such treatment are undocumented...
  13. Rudnicki D, Holmes S, Lin M, Thornton C, Ross C, Margolis R. Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci. Ann Neurol. 2007;61:272-82 pubmed
    ..The goal of this study, therefore, was to test the plausibility of an RNA gain-of-function component in the pathogenesis of HDL2...
  14. Bradford J, Li S, Li X. Polyglutamine toxicity in non-neuronal cells. Cell Res. 2010;20:400-7 pubmed publisher
    ..Understanding the contribution of non-neuronal polyglutamine proteins to disease progression will help elucidate disease mechanisms and also help in the development of new treatment options...
  15. Guarente L, Picard F. Calorie restriction--the SIR2 connection. Cell. 2005;120:473-82 pubmed
  16. Cheng S, Ma C, Qu H, Fan W, Pang J, He H. Differential effects of melatonin on hippocampal neurodegeneration in different aged accelerated senescence prone mouse-8. Neuro Endocrinol Lett. 2008;29:91-9 pubmed
    ..A purpose of this study is to compare the differential effects of melatonin on hippocampal neurodegeneration in accelerated senescence prone mouse-8 (SAMP8) which is initiated treatment at different age...
  17. Brachet P, Damier P. [Repair]. Rev Neurol (Paris). 2002;158 Spec no 1:S49-55 pubmed
    ..It is hoped that it will be possible to tightly control their proliferation and differentiation into dopaminergic neurons. Hence, it seems possible that transplantation will be widely used in the clinic in the future...
  18. Korn Lubetzki I, Steiner I. The occurrence of Guillain-Barré syndrome within families. Neurology. 2005;64:1665-6; author reply 1665-6 pubmed
  19. Scacco S, Petruzzella V, Bertini E, Luso A, Papa F, Bellomo F, et al. Mutations in structural genes of complex I associated with neurological diseases. Ital J Biochem. 2006;55:254-62 pubmed
  20. Hayflick S. Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). J Neurol Sci. 2003;207:106-7 pubmed
  21. Salman M, Marles S, Booth F, Del Bigio M. Early-onset neurodegenerative disease of the cerebellum and motor axons. Pediatr Neurol. 2009;40:365-70 pubmed publisher
    ..In the spinal cord, motor neuron cell bodies and the posterior columns were spared. This clinical entity likely represents a novel neurodegenerative disease of the cerebellum and long motor axons...
  22. Espinós Armero C, Gonzalez Cabo P, Palau Martínez F. [Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]. Rev Neurol. 2005;41:409-22 pubmed
    ..Due to autosomal recessive inheritance, previous familial history of affected individuals unlikely...
  23. Soylu H, Yuksel A, Kutlu N, Aydinli M, Seven M, Mocan H. Infantile-onset megalencephalic leucoencephalopathy in two siblings. J Paediatr Child Health. 2000;36:598-602 pubmed
    ..In addition, bilateral cystic changes were determined predominantly in the temporal lobes. There were no clear biochemical or metabolic disturbances. In the present paper, we discuss the clinical and neuroimaging findings of IML...
  24. Howarth J, Glover C, Uney J. HSP70 interacting protein prevents the accumulation of inclusions in polyglutamine disease. J Neurochem. 2009;108:945-951 pubmed publisher
    ..HIP expression is not increased following stress and its over-expression may therefore reduce toxic polyglutamine aggregation events and contribute to an effective therapeutic strategy...
  25. Ghiso J, Revesz T, Holton J, Rostagno A, Lashley T, Houlden H, et al. Chromosome 13 dementia syndromes as models of neurodegeneration. Amyloid. 2001;8:277-84 pubmed
    ..We propose FBD and FDD, the chromosome 13 dementia syndromes, as models to study the molecular basis of neurofibrillary degeneration, cell death and amyloid formation in the brain...
  26. Lee H, Casadesus G, Nunomura A, Zhu X, Castellani R, Richardson S, et al. The neuronal expression of MYC causes a neurodegenerative phenotype in a novel transgenic mouse. Am J Pathol. 2009;174:891-7 pubmed publisher
  27. de Pril R, Fischer D, Maat Schieman M, Hobo B, de Vos R, Brunt E, et al. Accumulation of aberrant ubiquitin induces aggregate formation and cell death in polyglutamine diseases. Hum Mol Genet. 2004;13:1803-13 pubmed
    ..These findings implicate UBB(+1) as an aggravating factor in polyglutamine-induced neurodegeneration, and clearly identify an important role for the ubiquitin-proteasome system in polyglutamine diseases...
  28. Benarroch E. Tissue plasminogen activator: beyond thrombolysis. Neurology. 2007;69:799-802 pubmed
  29. Maurer M, Toyka K, Martini R. [The role of the immune system in hereditary demyelinating neuropathies]. Nervenarzt. 2005;76:690-700 pubmed
    ..In this review we compare findings from animal models and human disease to elucidate the role of the immune system in hereditary neuropathies...
  30. Trivedi S, Ramakrishna G. miRNA and neurons. Int J Neurosci. 2009;119:1995-2016 pubmed
    ..Finally, the review raises points that may be helpful for researchers in exploring areas that have remained unanswered vis-à-vis the biogenesis and regulatory roles of miRNAs...
  31. Crompton D, Rehal P, MacPherson L, Foster K, Lunt P, Hughes I, et al. Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. Mol Genet Metab. 2010;100:207-12 pubmed publisher
    ..5% of PLA2G6 mutations. MLPA should thus be employed to detect CNVs of PLA2G6 in patients who show clinical features of PLAN but in whom both disease-causing mutations cannot be identified on routine sequencing...
  32. Pearson C, Nichol Edamura K, Cleary J. Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet. 2005;6:729-42 pubmed
    ..They have revealed surprising ways in which metabolic pathways can drive or protect from repeat instability...
  33. Powers J. p53-mediated apoptosis, neuroglobin overexpression, and globin deposits in a patient with hereditary ferritinopathy. J Neuropathol Exp Neurol. 2006;65:716-21 pubmed
    ..Hereditary ferritinopathy is the first human disease in which abnormalities in these heme-containing proteins are demonstrated...
  34. Kwong J, Beal M, Manfredi G. The role of mitochondria in inherited neurodegenerative diseases. J Neurochem. 2006;97:1659-75 pubmed
    ..Understanding the contribution of mitochondrial dysfunction to neurodegeneration and its pathophysiological basis will significantly impact our ability to develop more effective therapies for neurodegenerative diseases...
  35. Wan J, Khanna R, Sandusky M, Papazian D, Jen J, Baloh R. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology. 2005;64:2090-7 pubmed
    ..Mutations in CACNA1A cause a wide range of neurologic disturbances variably associated with cerebellar degeneration. Functional studies to date focus on electrophysiologic defects that do not adequately explain the phenotypic findings...
  36. Harris Z. Aceruloplasminemia. J Neurol Sci. 2003;207:108-9 pubmed
  37. Segawa M. [Visual child neurology]. Rinsho Shinkeigaku. 2003;43:739-43 pubmed
    ..While, postural dystonia, tics in GTS and symptoms in EAOH reflect the development of the causative neurons and the neuronal systems...
  38. Degos B, Echaniz Laguna A, Latour P, Vandenberghe A, Anheim M, Talmant V, et al. [Hereditary neuropathy with liability to pressure palsy presenting with an acute inflammatory demyelinating polyneuropathy]. Rev Neurol (Paris). 2004;160:1203-6 pubmed
    ..It is usually caused by a 1.5 Mb deletion of the PMP22 gene (17p11.2)...
  39. Lossos A, Dobson Stone C, Monaco A, Soffer D, Rahamim E, Newman J, et al. Early clinical heterogeneity in choreoacanthocytosis. Arch Neurol. 2005;62:611-4 pubmed
    ..Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene...
  40. Branco J, Al Ramahi I, Ukani L, Perez A, Fernandez Funez P, Rincón Limas D, et al. Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases. Hum Mol Genet. 2008;17:376-90 pubmed
    ..Our results point to potential common therapeutic targets in novel pathways, and to genes and pathways responsible for differences between Ataxin-1 and Huntingtin-induced neurodegeneration...
  41. Yamada M, Tsuji S, Takahashi H. Pathology of CAG repeat diseases. Neuropathology. 2000;20:319-25 pubmed
  42. Needham L, Thelen K, Maness P. Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions. J Neurosci. 2001;21:1490-500 pubmed
  43. Yazawa I, Hazeki N, Nakase H, Kanazawa I, Tanaka M. Histone H3 is aberrantly phosphorylated in glutamine-repeat diseases. Biochem Biophys Res Commun. 2003;302:144-9 pubmed
    ..Aberrant phosphorylation of histone H3 is surmised to be a shared pathological process in glutamine-repeat diseases...
  44. Kakizuka A. [A challenge for revealing common molecular mechanisms underlying neurodegenerative disorders]. Rinsho Shinkeigaku. 2002;42:1054-63 pubmed
    ..A proper regulation of VCP function is thus proposed to lead to novel treatments that are effective in a broad spectrum of neurodegenerative diseases...
  45. Avanzini G, Franceschetti S, Avoni P, Liguori R. Molecular biology of channelopathies: impact on diagnosis and treatment. Expert Rev Neurother. 2004;4:519-39 pubmed
  46. Pittman A, Fung H, de Silva R. Untangling the tau gene association with neurodegenerative disorders. Hum Mol Genet. 2006;15 Spec No 2:R188-95 pubmed
  47. Pellecchia M, Valente E, Cif L, Salvi S, Albanese A, Scarano V, et al. The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology. 2005;64:1810-2 pubmed
    ..Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome...
  48. Kraemer B, Burgess J, Chen J, Thomas J, Schellenberg G. Molecular pathways that influence human tau-induced pathology in Caenorhabditis elegans. Hum Mol Genet. 2006;15:1483-96 pubmed
    ..This work uncovers novel candidate genes that prevent tau toxicity, as well as genes previously implicated in tau-mediated neurodegeneration...
  49. Larner A. Monogenic Mendelian disorders in general neurological practice. Int J Clin Pract. 2008;62:744-6 pubmed
    ..All such patients are probably best referred to specialist clinics where expertise in diagnosis, genetic counselling and testing, and management has been developed...
  50. Yamada M, Shimohata M, Sato T, Tsuji S, Takahashi H. Polyglutamine disease: recent advances in the neuropathology of dentatorubral-pallidoluysian atrophy. Neuropathology. 2006;26:346-51 pubmed
    ..Polyglutamine diseases have a similarity with neuronal storage disease, and this pathological process might become a target for the establishment of an effective therapy for these diseases...
  51. Legendre M, Pochet N, Pak T, Verstrepen K. Sequence-based estimation of minisatellite and microsatellite repeat variability. Genome Res. 2007;17:1787-96 pubmed
    ..Our analysis indicates that tandem repeats used for genotyping should have a VARscore between 1 and 3. SERV is publicly available from http://hulsweb1.cgr.harvard.edu/SERV/...
  52. Howard H, Dupre N, Mathieu J, Bouchard J, Rouleau G. [Severe neuropathy with agenesis of the corpus callosum]. Med Sci (Paris). 2003;19:414-6 pubmed
  53. O Brien D, Johnson G, Schnabel R, Khan S, Coates J, Johnson G, et al. Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. J Hered. 2005;96:727-34 pubmed
    ..CED mapped to a region of CFA17 (LOD > 14) containing orthologs from HSA2. EDAR, the gene for the ectodysplasin A1 receptor, occurs on HSA2 but was excluded as the cause of canine ectodermal dysplasia...