Genomes and Genes
Thomas D Bird
Affiliation: University of Washington
- The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegenerationChang En Yu
Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, 1660 S Columbian Way, Seattle, WA 98108, USA
Arch Neurol 67:161-70. 2010..However, it is unclear whether some rare FTD-related GRN variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by GRN mutations...
- Epidemiology and genetics of frontotemporal dementia/Pick's diseaseThomas Bird
VA Medical Center, Seattle, WA, USA
Ann Neurol 54:S29-31. 2003
- Geriatric neurogenetics: oxymoron or reality?Thomas D Bird
Geriatric Research Education Clinical Center, VA Puget Sound Health Care System, 1660 S Columbian Way, S 182 GRECC, Seattle, WA 98108, USA
Arch Neurol 65:537-9. 2008..Primary genetic diseases are generally associated with pediatric and young adult populations. Little information is available about the occurrence of single-gene mendelian diseases in elderly populations...
- Approaches to the patient with neurogenetic diseaseThomas D Bird
Department of Neurology, University of Washington, Geriatric Research Center, Veterans Affairs Medical Center, Seattle, WA, USA
Clin Lab Med 30:785-93. 2010....
- Approaches to the patient with neurogenetic diseaseThomas D Bird
Department of Neurology, University of Washington, Geriatric Research Center, VA Medical Center, Seattle, WA, USA
Neurol Clin 20:619-26, v. 2002..Clues suggesting the presence of a genetic disease, 2. The importance of family history, 3. The interpretation of sporadic cases, 4. Genetic counseling, 5. Genetic testing and 6. Available resources...
- Genetic aspects of Alzheimer diseaseThomas D Bird
University of Washington, Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington, USA
Genet Med 10:231-9. 2008..The epsilon4 allele of Apo lipoprotein E influences age at onset of Alzheimer disease, but is neither necessary nor sufficient for the disease. The search continues for the discovery of additional genetic influences...
- Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotypeSuman Jayadev
Department of Neurology, University of Washington, Seattle, WA, USA
Ann Neurol 69:712-20. 2011..To describe the Alzheimer disease (AD)-like clinical and pathological features, including marked neurofibrillary tangle (NFT) pathology, of a familial prion disease due to a rare nonsense mutation of the prion gene (PRNP)...
- Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementiaPurnima Desai Sundar
Department of Medicine, Division of Gerontology and Geriatric Medicine, University of Washington, Seattle, WA 98195, USA
Hum Mol Genet 16:295-306. 2007..Others have shown that SNP6 is also associated with risk for progressive supranuclear palsy. These two independent cis-acting sites presumably influence risk for Guam neuro-degenerative disorders by regulating MAPT expression...
- APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutationEllen M Wijsman
Department of Medicine, Division of Medical Genetics, University of Washington, Box 357720, Seattle, WA 98195 7720, USA
Am J Med Genet B Neuropsychiatr Genet 132:14-20. 2005..5, and approximately 8.5%, respectively. These results provide evidence that APOE and other loci modify onset in AD caused by PS2 mutation...
- A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutationsDong Hui Chen
Department of Neurology, University of Washington, Seattle, WA, USA
J Neurol Sci 296:22-9. 2010..However, recognizing the typical scapuloperoneal phenotype and X-linked inheritance pattern will help clinicians arrive at the correct diagnosis...
- Glucocerebrosidase gene mutations: a risk factor for Lewy body disordersIgnacio F Mata
Department of Neurology, University of Washington School of Medicine, Seattle, USA
Arch Neurol 65:379-82. 2008..However, these findings have not been consistently replicated, and most studies have had substantial methodological shortcomings...
- A novel X-linked four-repeat tauopathy with Parkinsonism and spasticityParvoneh Poorkaj
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA
Mov Disord 25:1409-17. 2010..In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and four-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3...
- Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindredsDong Hui Chen
Department of Neurology, University of Washington, Seattle, 98195 7720, USA
Arch Neurol 62:597-600. 2005..An autosomal dominant form of this disorder was mapped to chromosome 2q33-36, and different missense mutations in exon 1 of the myofibrillogenesis regulator 1 (MR1) gene were identified recently in 2 kindreds...
- Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's diseaseWeiva Sieh
Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
Hum Hered 63:26-34. 2007..We evaluated the effects of different methods of haplotype frequency estimation, and the use of marker phase information, on linkage analysis of a multi-SNP cluster in a candidate region for Alzheimer's disease (AD)...
- Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 familiesElizabeth E Marchani
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195 7720, USA
Am J Med Genet B Neuropsychiatr Genet 153:1031-41. 2010..More generally, this study also demonstrates the value of searching for modifier loci in existing datasets previously used to identify primary causal variants for complex disease traits...
- The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer diseaseChang En Yu
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, University of Washington, Seattle, WA 98108, USA
Arch Neurol 67:631-3. 2010..To connect a new family with early-onset Alzheimer disease (EOAD) in Germany to the American Volga German pedigrees...
- Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneityYoonha Choi
Department of Biostatistics, University of Washington, Seattle, USA
Am J Med Genet B Neuropsychiatr Genet 156:785-98. 2011..These results, therefore, provide independent confirmation of AD loci in family-based samples on chromosomes 1q, 7q, 19p, and suggest that further efforts towards identifying the underlying causal loci are warranted...
- TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3Ge Li
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA
Alzheimers Dement 9:554-61. 2013..This study investigates the association between TOMM40 poly-T length, age at onset, and neuropathology in individuals with Alzheimer's disease (AD) with the apolipoprotein E (APOE) ε3/ε3 allele...
- Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxiaDong Hui Chen
Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
Am J Hum Genet 72:839-49. 2003..These results strongly support a new mechanism for neuronal cell dysfunction and death in hereditary ataxias and suggest that there may be a common pathway for PKC gamma-related and polyglutamine-related neurodegeneration...
- Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolatesWeiva Sieh
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA
Hum Mol Genet 18:3725-38. 2009..Elucidation of the genetic basis of ALS/PDC should improve our understanding of related neurodegenerative disorders including Alzheimer disease, Parkinson disease, frontotemporal dementia and ALS...
- Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOEEllen M Wijsman
Division of Medical Genetics, University of Washington, Seattle, Washington, United States of America
PLoS Genet 7:e1001308. 2011..We suggest that similar adjustments may also be needed for many other large multi-site studies...
- Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotypeJames B Leverenz
Parkinson s Disease, Mental Illness Research, Education, and Clinical Centers, Veterans Affairs Puget Sound Health Care System, Seattle, Wash, USA
Arch Neurol 63:370-6. 2006..The origin and significance of Lewy bodies and neurites (Lewy body pathology [LBP]) in Alzheimer disease (AD) are poorly understood...
- Lack of evidence for an association between UCHL1 S18Y and Parkinson's diseaseCarolyn M Hutter
Department of Epidemiology, University of Washington, Seattle, WA, USA
Eur J Neurol 15:134-9. 2008..Our results suggest that UCHL1 S18Y is not a major susceptibility factor for PD in white populations although we cannot exclude the possibility that the S18Y variant exerts weak effects on risk, particularly in early-onset disease...
- Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case seriesDebby W Tsuang
Mental Illness Research, Education, and Clinical Centers, Veteran Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
J Alzheimers Dis 9:235-42. 2006..Lewy body pathology (LBP) is a common finding in Alzheimer's disease (AD), but the pathophysiology for this coexistent pathology remains unclear...
- Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer diseaseKiri L Brickell
Department of Neurology, VA Puget Sound Health Care System, University of Washington, 1660 S Columbian Way, Seattle, WA 98108, USA
Arch Neurol 63:1307-11. 2006..Genetic influences on the development of late-onset Alzheimer disease (LOAD) are heterogeneous and ill defined...
- Genetics of Alzheimer diseaseLynn M Bekris
Department of Medicine, University of Washington School of Medicine, Seattle, WA 98108, USA
J Geriatr Psychiatry Neurol 23:213-27. 2010..Identification of these genes has led to a number of animal models that have been useful to study the pathogenesis underlying AD. In this article, we provide an overview of the clinical and genetic features of AD...
- Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2Suman Jayadev
Department of Neurology, University of Washington, 1660 S Columbian Way, 182 GRECC, Seattle, WA 98108, USA
Brain 133:1143-54. 2010..A novel premature termination mutation supports loss of function or haploinsufficiency as pathogenic mechanisms in presenilin 2 associated Alzheimer's disease...
- Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onsetWei Zhao
Department of Biostatistics, University of Washington, Seattle, WA 98195, USA
Am J Med Genet B Neuropsychiatr Genet 162:201-12. 2013..12. These results provide the first independent confirmation of an AD age-at-onset locus on chromosome 6 and suggest that further efforts towards identifying the underlying causal locus or loci are warranted...
- A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qterZoran Brkanac
Department of Psychiatry, University of Washington, Seattle, WA 98195 7720, USA
Arch Neurol 59:1291-5. 2002..Although molecular genetic studies have so far implicated 16 loci in the etiology of these diseases, approximately 30% of families with SCAs remain unlinked...
- Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21Wendy H Raskind
Department of Medicine, University of Washington School of Medicine, Seattle, Washington 98195 7720, USA
Am J Med Genet B Neuropsychiatr Genet 150:570-4. 2009..Identification of additional families with FDFM may narrow the critical region and facilitate the choice of candidate genes for further analysis...
- Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's diseaseMichael R Cassidy
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
Alzheimers Dement 4:406-13. 2008..The purpose of this study was to compare the psychological impact of using these two different types of genetic information to disclose genetic risk for AD to family members of affected patients...
- Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong Hui Chen
Department of Neurology, University of Washington, Seattle, Washington, 98195
Hum Mutat 34:1672-8. 2013..The possible involvement of haploinsufficiency for GINS1, a DNA replication complex protein, in the short stature of the patient and her mother requires further studies. ..
- CDC7 inhibition blocks pathological TDP-43 phosphorylation and neurodegenerationNicole F Liachko
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA Department of Medicine, University of Washington, Seattle, WA
Ann Neurol 74:39-52. 2013..Dual phosphorylation of TDP-43 at serines 409/410 (S409/410) drives neurotoxicity in disease models; therefore, TDP-43-specific kinases are candidate targets for intervention...
- Familial dementia with Lewy bodies with an atypical clinical presentationLauren T Bonner
Department of Veterans Affairs Northwest Network Mental Illness Research, Education, and Clinical Center, University of Washington, Seattle 98108, USA
J Geriatr Psychiatry Neurol 16:59-64. 2003..Family history revealed 7 relatives with a history of dementia including 4 with possible or probable DLB. This case is unique because of the FTLD-like presentation, positive family history of dementia, and autopsy confirmation of DLB...
- Upregulated function of mitochondria-associated ER membranes in Alzheimer diseaseEstela Area-Gomez
Department of Neurology, Columbia University Medical Center, New York, NY, USA
EMBO J 31:4106-23. 2012..We propose that upregulated MAM function at the ER-mitochondrial interface, and increased cross-talk between these two organelles, may play a hitherto unrecognized role in the pathogenesis of AD...
- Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2Ellen M Wijsman
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
Am J Hum Genet 75:398-409. 2004..We also obtained weak evidence of linkage to chromosome 10 at the same location as a previous report of linkage but found no evidence for linkage of LOFAD age-at-onset loci to chromosomes 9, 12, or 21...
- Conjugal Alzheimer disease: risk in children when both parents have Alzheimer diseaseSuman Jayadev
Department of Neurology, University of Washington, Seattle, USA
Arch Neurol 65:373-8. 2008..There is limited information regarding children's risk of Alzheimer disease (AD) if both parents are affected...
- Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseasesGiovanni Coppola
Department of Neurology, University of California, Los Angeles, CA, USA
Hum Mol Genet 21:3500-12. 2012....
- A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insultKatherine E Hekman
Department of Neurology, Institute for Genomics and Systems Biology, University of Chicago, Chicago, IL 60637, USA
Hum Mol Genet 21:5472-83. 2012..Our results present a compelling candidate mutation and mechanism for the pathogenesis of SCA26 and further support the role of proteostatic disruption in neurodegenerative diseases...
- Novel antibody capture assay for paraffin-embedded tissue detects wide-ranging amyloid beta and paired helical filament-tau accumulation in cognitively normal older adultsNadia Postupna
Department of Pathology, University of Washington, Seattle, USA
Brain Pathol 22:472-84. 2012....
- IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23Zoran Brkanac
Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98104, USA
Am J Hum Genet 84:692-7. 2009..Mutation analysis of IFRD1 in additional patients with similar phenotypes is needed for demonstration of causality and further evaluation of its importance in neurological diseases...
- Detergent-insoluble EAAC1/EAAT3 aberrantly accumulates in hippocampal neurons of Alzheimer's disease patientsKevin Duerson
Geriatric Research Education and Clinical Center, VA Medical Center, 1660 S Columbian Way, Seattle, WA 98108, USA
Brain Pathol 19:267-78. 2009....
- The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspotIgnacio F Mata
Veterans Affairs Puget Sound Health Care System, Seattle, Washington
Am J Med Genet B Neuropsychiatr Genet 171:925-30. 2016..LRRK2 p.R1441S represents the fourth pathogenic mutation observed within codon 1441 and its discovery adds to the remarkable complexity of a mutational hotspot within the ROC domain of the LRRK2 protein. © 2016 Wiley Periodicals, Inc. ..
- R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological StudyOlena Korvatska
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle
JAMA Neurol 72:920-7. 2015....
- The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43Nicole F Liachko
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, Washington, United States of America Department of Medicine, University of Washington, Seattle, Washington, United States of America
PLoS Genet 10:e1004803. 2014..These kinases may represent attractive targets for therapeutic intervention for TDP-43 proteinopathies such as ALS and FTLD-TDP. ..
- Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymiaYing Zhang Chen
Department of Medicine Medical Genetics, University of Washington, Seattle, WA
Ann Neurol 75:542-9. 2014....
- Hereditary ataxias: overviewSuman Jayadev
Department of Neurology, University of Washington, Seattle, Washington, USA
Genet Med 15:673-83. 2013..However, the best testing strategy is based on assessing relative frequencies, ethnic predilections, and recognition of associated phenotypic features such as seizures, visual loss, or associated movement abnormalities...
- Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5Ying Zhang Chen
Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
Arch Neurol 69:630-5. 2012..In a 5-generation family of German ancestry, we previously mapped FDFM to chromosome band 3p21-3q21. The 72.5-Mb linkage region was too large for traditional positional mutation identification...
- The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophySeth D Friedman
Department of Radiology, Seattle Children s Hospital, 4800 Sandpoint Way, Room R4488, Seattle, Washington 98105, USA
Muscle Nerve 45:500-6. 2012..We used a one-step quantitative magnetic resonance imaging (MRI) method to evaluate muscle, edema, and fat in patients spanning the range of severity...
- Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophyMegan L Landsverk
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA
Hum Mol Genet 18:1200-8. 2009..This exon also encodes for a majority of the SEPT9 N-terminal proline rich region suggesting that this region plays a role in the pathogenesis of HNA...
- Familial dementia with lewy bodies: a clinical and neuropathological study of 2 familiesDebby W Tsuang
Department of Veterans Affairs Northwest Network Mental Illness Research, Education, and Clinical Center, VA Puget Sound Health Care System, 1660 S Columbian Way, Mailstop 116MIRECC, Seattle, WA 98108, USA
Arch Neurol 59:1622-30. 2002..Few families with DLB have been described with detailed clinical, pathological, and genetic assessments...
- Spinocerebellar ataxia type 14Dong Hui Chen
Department of Neurology, University of Washington, Seattle, WA, USA
Handb Clin Neurol 103:555-9. 2012..A single autopsy has shown loss of cerebellar Purkinje cells. The disease is caused by mutations in the protein kinase C gamma (PKCγ, PRKCG) gene with a hotspot for mutations in exon 4. Genetic testing for SCA14 is clinically available...
- Prion protein codon 129 genotype prevalence is altered in primary progressive aphasiaXiaohong Li
Department of Neurology, Pritzker School of Medicine and Center for Comprehensive Care and Research on Memory Disorders, University of Chicago, 5841 S Maryland Avenue, Chicago, IL 60637, USA
Ann Neurol 58:858-64. 2005..However, the strong association between heterozygosity and PPA raises new questions about its cause and the role of PrP in other neurodegenerative diseases...
- The phosphatase calcineurin regulates pathological TDP-43 phosphorylationNicole F Liachko
Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA, 98108, USA
Acta Neuropathol 132:545-61. 2016..Taken together, these findings suggest calcineurin acts on pTDP as a phosphatase in neurons. Furthermore, patient treatment with calcineurin inhibitors may have unappreciated adverse neuropathological consequences. ..
- Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9LDong Hui Chen
Department of Neurology, University of Washington School of Medicine, Seattle, WA 98195, USA
Am J Hum Genet 98:1146-58. 2016..Furthermore, we show that AP syndrome is distinct from the dyskeratoses congenita telomeropathies, with which it shares some clinical characteristics. ..
- Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)Olena Korvatska
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA
Hum Mol Genet 22:3259-68. 2013..Mutations in XPDS and MRXSH alter binding sites for different splicing factors, which may explain the marked differences in age of onset and manifestations. ..
- LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia agoCyrus P Zabetian
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
Am J Hum Genet 79:752-8. 2006..Our data suggest two separate founding events for G2019S in these populations, beginning at a time that coincides with the Jewish Diasporas...
- Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypesJulie A Hodapp
Department of Rehabilitation Medicine, School of Medicine, University of Washington, Seattle, USA
Arch Neurol 63:112-7. 2006..Mutations in the peripheral myelin protein 22 (PMP-22) gene are the most common cause of Charcot-Marie-Tooth neuropathy and may rarely occur in combination with other neurogenetic diseases...
- Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneityDong Hui Chen
Department of Neurology, University of Washington, Seattle, WA, USA
J Neurol Sci 196:91-6. 2002..These findings expand the phenotype of and demonstrate further evidence for the heterogeneity in the CCM syndrome...
- Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32Zoran Brkanac
Department of Psychiatry, University of Washington School of Medicine, Seattle, Washington 98108, USA
Am J Med Genet 114:450-7. 2002..Because this disorder does not easily fall into either the SCA or HSN categories, it is designated sensory/motor neuropathy with ataxia (SMNA)...
- Genetic factors in Alzheimer's diseaseThomas D Bird
University of Washington, Seattle, USA
N Engl J Med 352:862-4. 2005
- A patient with Huntington's disease and long-surviving fetal neural transplants that developed mass lesionsC Dirk Keene
Department of Pathology, Harborview Medical Center, University of Washington Medical Center, Seattle, 98104, USA
Acta Neuropathol 117:329-38. 2009..This report, for the first time, highlights the potential for graft overgrowth in a patient receiving fetal neural transplantation...
- Genetics of dementiaDebby W Tsuang
Departments of Psychiatry and Behavioral Sciences and Epidemiology, University of Washington, Seattle, WA, USA
Med Clin North Am 86:591-614. 2002..Future clinical and molecular genetics findings hold many clinical implications. It is likely that new diagnostic and therapeutic strategies for dementing disorders are just on the horizon...
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerveCraig L Bennett
Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA, USA
Ann Neurol 55:713-20. 2004..We report the expression of SIMPLE in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C...
- Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritanceRandal C Richardson
Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, and Seattle Children s Hospital, 4800 Sand Point Way NE, Neurology, MB 7 420, Seattle, Washington, USA, 98105
Muscle Nerve 49:593-600. 2014..Myotonia congenita due to protein truncating CLCN1 mutations is associated with variable patterns of inheritance...
- GeneTests-GeneClinics: genetic testing information for a growing audienceRoberta A Pagon
University of Washington, Seattle, Washington, USA
Hum Mutat 19:501-9. 2002..The use of these combined resources has grown to approximately 3,200 visits/day...
- An R5L tau mutation in a subject with a progressive supranuclear palsy phenotypeParvoneh Poorkaj
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA 98195, USA
Ann Neurol 52:511-6. 2002..Insoluble tau from cortical regions also contained 1N3R tau. Thus, the R5L mutation causes a progressive supranuclear palsy phenotype, presumably by a gain-of-function mechanism...
- Familial occurrence of dementia with Lewy bodiesDebby W Tsuang
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98108, USA
Am J Geriatr Psychiatry 12:179-88. 2004....
- Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disordersCorrine O Smith
Department of Neurology, University of Washington, Geriatric Research Education and Clinical Center, Seattle, WA 98108, USA
Arch Neurol 61:875-80. 2004..With the exception of Huntington disease, the psychological and psychosocial impact of DNA testing for neurogenetic disorders has not been well studied...
- Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesValerie A Street
V M Bloedel Hearing Research Center, Department of Otolaryngology Head and Neck Surgery, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 70:244-50. 2002..The epithelial membrane protein 2 gene (EMP2), which maps to chromosome 16p13.2, was evaluated as a candidate gene for CMT1C...
- Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield
Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
Cell 140:74-87. 2010..These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals...
- Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondriaEstela Area-Gomez
Department of Neurology, Columbia University Medical Center, New York, New York, USA
Am J Pathol 175:1810-6. 2009....
- New gene for CMTValerie A Street
J Peripher Nerv Syst 8:206. 2003
- Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gammaIchiro Yabe
Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Arch Neurol 60:1749-51. 2003..Different PRKCG mutations were found in another family with SCA and in a sporadic case from the United States. Axial myoclonus was not observed in any of these US families...
- Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxiaYoshio Ikeda
Institute of Human Genetics and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, 55455, USA
Am J Hum Genet 75:3-16. 2004....
- Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystoniaSian D Spacey
Division of Neurology, Brain Research Center, University of British Columbia, Vancouver, Canada
Arch Neurol 62:314-6. 2005..Episodic ataxia type 2 (EA2) is an autosomal dominant condition that results from mutations in the CACNA1A gene. It is characterized by episodes of ataxia and nystagmus that typically last hours...
- Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurographyDilantha B Ellegala
Department of Neurological Surgery, University of Virginia, Charlottesville, Virginia, USA
J Neurosurg 102:242-5. 2005..The authors investigated MR neurography as a possible method to characterize CMT subtypes...
- Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive Angela M Boutte
Center for Molecular Neuroscience, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
J Alzheimers Dis 8:1-6. 2005..Our results show that modification of tubulin function may contribute to intermediate or late stages in the pathogenesis of sporadic and inherited AD as well as FTDP-17...
- TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysisVivianna M Van Deerlin
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Lancet Neurol 7:409-16. 2008..Our aim was to investigate whether TARDBP is a candidate disease gene for familial ALS that is not associated with mutations in superoxide dismutase 1 (SOD1)...
- Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's diseaseKiri L Brickell
Neurological Foundation of New Zealand, New Zealand
J Neurol Neurosurg Psychiatry 78:1050-5. 2007..We had the opportunity to assess the concordance and discordance of clinical presentation and neuropathology in three MZ twin pairs with AD...
- Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer diseaseHans Basun
Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden
Arch Neurol 65:499-505. 2008..Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-beta-amyloid mutation to date causing the more typical clinical picture of Alzheimer disease...
- Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutationKatsutoshi Furukawa
Laboratory of Neurosciences, Gerontology Research Center, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
J Neurochem 87:427-36. 2003..Our results indicate that a tau mutation which decreases its microtubule-binding ability augments calcium influx by depolymerizing microtubules and activating adenylyl cyclase and PKA...
- Silver syndrome: The complexity of complicated hereditary spastic paraplegiaLewis P Rowland
Neurology 70:1948-9. 2008
- Invited comments on the Shostak and Ottman reviewThomas D Bird
Epilepsia 47:1748-9; author reply 1755-6. 2006
- Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)Sarah Furtado
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada
Mov Disord 19:622-9. 2004..This review emphasizes the importance of testing for SCA2 in patients with parkinsonism and a family history of neurodegenerative disorders. Testing for SCA2 is also important in studies of inherited parkinsonism...
- Functional implications of a novel EA2 mutation in the P/Q-type calcium channelSian D Spacey
Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Ann Neurol 56:213-20. 2004..We also tested the direct effect of acetazolamide on both wild-type and H1736L mutated P/Q-type channels and did not observe any direct action on channel properties of this pharmacological agent used to treat EA2 patients...
- Ventilatory support in facioscapulohumeral muscular dystrophyGregory T Carter
Neurology 64:401; author reply 401. 2005
- Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesKen Inoue
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 71:838-53. 2002..In one family, junction sequences revealed a complex recombination event. Our data suggest that PLP1 deletions are likely caused by nonhomologous end joining...