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Genomes and Genes | P HederaSummaryAffiliation: Vanderbilt University Country: USA Publications
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Publications
Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin II. The denture cream is a primary source of excessive zincPeter Hedera
Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
Neurotoxicology 30:996-9. 2009..Their copper and zinc normalized after stopping denture cream, further confirming that this is the source of high zinc. Inappropriate use of denture cream appears to be the sole source of excessive zinc in these patients...
High-throughput mutational analysis of TOR1A in primary dystoniaJianfeng Xiao
Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA
BMC Med Genet 10:24. 2009..The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia...
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizuresShaochun Ma
Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
BMC Med Genet 6:13. 2005..We attempted to replicate this study in our cohort of patients with TLE. Furthermore, we also analyzed the coding sequence of this gene and searched for disease-causing mutations...
Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical featuresPeter Hedera
Department of Pediatrics, Division of Genetics, University of Michigan, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0618, USA
Am J Med Genet A 122:257-60. 2003..The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes...- Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin: further support for existence of a new zinc overload syndromePeter Hedera
Department of Neurology, University of Michigan, Ann Arbor, USA
Arch Neurol 60:1303-6. 2003..To describe a patient with idiopathic zinc overload without an identifiable source and secondary copper deficiency causing myelopolyneuropathy and pancytopenia... - The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysisPeter Hedera
Department of Neurology, University of Michigan Medical Center, Ann Arbor, USA
Arch Neurol 60:1321-5. 2003..Genetic causes within this subgroup of muscle disorders remain largely unknown. An MPD linked to chromosome 14q11-q13 (MPD1) is rare, and to our knowledge, only one family with definitive linkage has been described... - Positive family history of essential tremor influences the motor phenotype of Parkinson's diseasePeter Hedera
Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8522, USA
Mov Disord 24:2285-8. 2009..83, P < 0.001). Tremor-dominant subtype of PD in patients with a positive family history of ET suggests that these patients have inherited a genetic susceptibility factor for tremor, which affects the motor phenotype of PD... - Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 genePeter Hedera
Department of Neurology, Program in Human Genetics, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
Epilepsia 45:218-22. 2004..ADLTE is characterized by partial seizures with symptoms suggestive of a lateral temporal onset, including frequent auditory aura. Here we report the results of clinical and genetic analyses of two newly identified families with ADTLE... - Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22Peter Hedera
Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
Epilepsia 47:1622-8. 2006..To report results of linkage analysis in a large family with autosomal dominant (AD) febrile seizures (FS) and epilepsy... - Rotigotine adverse effects affecting patient's sexual partnerPeter Hedera
Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
Clin Neuropharmacol 33:46-7. 2010..This previously unrecognized mechanism may be more common and associated with other psychoactive compounds penetrating the blood-testis barrier, and it may account for otherwise unexplained postcoital somnolence or fatigue... - Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3P Hedera
Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
Neurology 68:2107-12. 2007..To report results of linkage analysis in a large family with autosomal dominant (AD) familial mesial temporal lobe epilepsy (FMTLE)... - Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegiaPeter Hedera
Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
Arch Neurol 61:1600-3. 2004..The mutational spectrum of the SPG3A gene and the phenotype/genotype correlations have not yet been established... - Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremorPeter Hedera
Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
BMC Neurol 10:66. 2010..Many patients with clinically definite ET develop dystonia. It remains unknown whether tremor associated with dystonia represent a subtype of ET. We hypothesized that ET with dystonia represents a distinct subtype of ET... - Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegiaX Zhao
Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109, USA
Nat Genet 29:326-31. 2001..Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals... - Prenatal diagnosis of hereditary spastic paraplegiaP Hedera
Department of Neurology, University of Michigan, Ann Arbor, MI, USA
Prenat Diagn 21:202-6. 2001..This is the first report of prenatal testing for HSP. Published in 2001 by John Wiley & Sons, Ltd... - Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?Shaochun Ma
Department of Neurology, Vanderbilt University, Nashville, Tennessee, USA
Mov Disord 21:1368-74. 2006..ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors... - Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorderP Hedera
Department of Neurology, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA
Neurology 58:411-6. 2002..The molecular explanation for apparent genetic anticipation does not appear to involve trinucleotide repeat expansion... - Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8qP Hedera
Department of Neurology, University of Michigan, Ann Arbor, MI 48109 0940, USA
Am J Hum Genet 64:563-9. 1999.... - Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4Peter Hedera
Department of Neurology, University of Michigan, Ann Arbor, USA
Ann Neurol 51:45-50. 2002..The syndrome we describe, designated X-linked mental retardation and epilepsy, is clinically and genetically distinct from X-linked West syndrome and other X-linked mental retardation-epilepsy syndromes... - Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegiaP Hedera
Department of Neurology, The University of Michigan, Rm. 5214 CCGCB, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-0940, USA
Neuroradiology 47:730-4. 2005..This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations... - Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2qJ K Fink
Department of Neurology, University of Michigan, Michigan 48109, USA
Am J Hum Genet 59:140-5. 1996.... - Familial genetic predisposition, epilepsy localization and antecedent febrile seizuresB Abou-Khalil
Epilepsy Res 73:104-10. 2007..The magnitude of genetic influence in epilepsy may vary in relation to epilepsy classification and localization and factors such as antecedent febrile seizures. We assessed this genetic influence in a large epilepsy population... - Confined stimulation using dual thalamic deep brain stimulation leads rescues refractory essential tremor: report of three casesHong Yu
Department of Neurosurgery, Vanderbilt School of Medicine, Nashville, TN 37232 2380, USA
Stereotact Funct Neurosurg 87:309-13. 2009..For these patients, the high voltage needed to adequately control tremor also generates circumferential current spread causing intolerable adverse effects... - Infantile onset of hereditary spastic paraplegia poorly predicts the genotypeMarcia A Blair
Department of Neurology Vanderbilt University, Nashville, TN 37232 8552, USA
Pediatr Neurol 36:382-6. 2007..Pediatric neurologists need to be aware of relatively frequent de novo mutations in hereditary spastic paraplegia genes and a possibility that this condition presents in infancy without a positive family history... - Treatment of Wilson's disease with zinc. XVII: treatment during pregnancyG J Brewer
Department of Human Genetics, Division of Speech Pathology, Michigan Medical School, Ann Arbor, MI, USA
Hepatology 31:364-70. 2000..The evidence is good that zinc protects the health of the mother during pregnancy. Fetal outcomes were generally quite good, although one baby had a surgically correctable heart defect and one had microcephaly... - Systematic isolation and characterization of cDNAs encoding AAA proteins from human brainXinping Zhao
Department of Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA
Bratisl Lek Listy 107:418-21. 2006..CONCLUSION: Fourteen novel AAA-containing proteins are potential candidates for human diseases including degenerative neurologic disorders, and their further analysis is ongoing (Tab. 1, Fig. 1, Ref. 22)... - Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1P Hedera
Department of Pediatrics, Division of Medical Genetics, University of Michigan, MI, USA
J Med Genet 39:484-8. 2002..Identification of additional families will facilitate identification of the gene causing this type of AD MFD and further characterisation of the clinical phenotype... - Genetic variants in the IMPA2 gene do not confer increased risk of febrile seizures in Caucasian patientsM A Blair
Department of Neurology, Vanderbilt University, Nashville, TN, USA
Eur J Neurol 14:424-7. 2007..Our data suggest that the genetic variants in the IMPA2 gene are not associated with a risk of FS in Caucasian patients and patients from various genetic groups are likely to have different genetic causes of FS... - Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsyShaochun Ma
Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
Epilepsy Res 71:129-34. 2006..Our data suggests that the majority of familial AD JME is not caused by mutations in the GABRA1 and EFHC1 genes... - Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegiaMarcia A Blair
Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
Neurogenetics 7:47-50. 2006..1+/-4 years. Our results demonstrate that mutations in the KIF5A gene can also be associated with an adult age of onset of AD HSP... - Reappraisal of the role of the DRD3 gene in essential tremorMarcia A Blair
Department of Neurology, Vanderbilt University, TN, USA
Parkinsonism Relat Disord 14:471-5. 2008..Analyze the distribution of polymorphism in the dopamine receptor D3 (DRD3) gene, which was previously reported as a susceptibility risk for essential tremor (ET), in a large cohort of ET... - Novel THAP1 sequence variants in primary dystoniaJ Xiao
Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
Neurology 74:229-38. 2010..Subsequent screening efforts in familial, mainly early-onset, primary dystonia identified additional THAP1 sequence variants in non-Amish subjects... - Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremorLisa M Sharkey
Department of Human Genetics, University of Michigan, 4812 Med Sci II, 1241 Catherine Street, Ann Arbor, MI 48109 5618, USA
Parkinsonism Relat Disord 15:321-3. 2009..SCN8A encodes the neuronal voltage gated sodium channel Na(v)1.6 that is widely expressed in the central nervous system. Several mutations of Scn8a in the mouse result in congenital postural tremor of the extremities and head... - Prevalence of unilateral tremor in autosomal dominant essential tremorFenna Phibbs
Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
Mov Disord 24:108-11. 2009..Our data shows that unilateral tremor associated with ET is relatively rare and can be identified in 4.4% patients in a cohort of familial ET... - Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizuresShaochun Ma
Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
Neurosci Lett 394:74-8. 2006..We conclude that these genes are not a major genetic factor in familial TLE preceded by FS... - Deep brain stimulation in early Parkinson's disease: enrollment experience from a pilot trialP D Charles
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Parkinsonism Relat Disord 18:268-73. 2012..DBS has not been studied in the early stages of PD, but early application should be explored to evaluate safety, efficacy, and the potential to alter disease progression... - Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndromeP Hedera
Department of Pediatrics, Division of Pediatric Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA
Am J Med Genet 101:142-5. 2001..The combination of clinical features found in these affected males is unique and supports the existence of RHYNS syndrome as a separate and distinct entity... - Neuroimaging of vessel amyloid in Alzheimer's diseaseR P Friedland
Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
Ann N Y Acad Sci 826:242-7. 1997..Alternately, imaging using labeled A beta itself may provide a means for noninvasive targeting of cerebral amyloid... - Ethical principles and pitfalls of genetic testing for dementiaP Hedera
Department of Neurology, University of Michigan, Ann Arbor 48109-0940, USA
J Geriatr Psychiatry Neurol 14:213-21. 2001..Predictive testing of unaffected subjects using susceptibility genes is currently not recommended because individual risk cannot be quantified and there are no therapeutic interventions for dementia in presymptomatic patients... - Inherited dementiasPeter Hedera
Department of Neurology, Vanderbilt University, Nashville, Tennesse, USA
Neurol Clin 20:779-808, vii. 2002.... - Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanismJiali Zhao
Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
J Neurosci 28:13938-51. 2008..We propose that HSP-associated mutations in NIPA1 lead to cellular and functional deficits through a gain-of-function mechanism supporting the ER accumulation of toxic NIPA1 proteins... - Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson diseaseGeorge J Brewer
Department of Human Genetics, University of Michigan Medical School, 5024 Kresge Bldg II, Ann Arbor, MI 48109 0534, USA
Arch Neurol 63:521-7. 2006..To compare tetrathiomolybdate and trientine in treating patients with the neurologic presentation of Wilson disease for the frequency of neurologic worsening, adverse effects, and degree of neurologic recovery... - Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant InheritancePeter Hedera
Department of Pediatrics and Communicable Diseases, University of Michigan Medical System, Ann Arbor, Michigan 48109, USA
Am J Med Genet A 123:261-6. 2003..These two individuals also displayed a skewed pattern of X chromosome inactivation. Together, these data strongly support the hypothesis that OFCD is inherited as an X-linked dominant condition... - Autosomal recessive primary generalized dystonia in two siblings from a consanguineous familyPaolo Moretti
Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA
Mov Disord 20:245-7. 2005..This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2)... - Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapyGeorge J Brewer
Department of Human Genetics, University of Michigan Medical School, 4909 Buhl, Ann Arbor, MI 48109 0618, USA
Arch Neurol 60:379-85. 2003..It is unclear what anticopper drug to use for patients with Wilson disease who present with neurologic manifestations because penicillamine often makes them neurologically worse and zinc is slow acting... - New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulationChristina A Gurnett
Department of Neurology, 660 S Euclid Ave, Box 8111, Washington University School of Medicine, St Louis, MO 63110, USA
Arch Neurol 64:324-8. 2007..This review will describe several novel epilepsy genes and will then discuss other genetic causes of epilepsy, including alterations of chromosomal copy number and gene regulatory elements... - Possible third case of Lin-Gettig syndromePeter Hedera
Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
Am J Med Genet 110:380-3. 2002..The existence of an unrelated patient with Lin-Gettig syndrome supports that this is a separate and distinct clinical entity... - Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndromeJeffrey W Innis
Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
Am J Med Genet A 131:77-81. 2004.... - Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)Christopher Meredith
Centre for Human Genetics, Edith Cowan University, Perth, Australia
Am J Hum Genet 75:703-8. 2004..These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified... - Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determinationEmma N Hilton
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
Hum Mol Genet 16:1773-82. 2007..Expression of xtPitx2c was shown to be downregulated when xtBcor was depleted. This identifies a pathway in which xtBcor is required for lateral specification, a process intrinsically linked to correct cardiac septal development... - The spastin jigsaw puzzle: another missing piece foundPeter Hedera
Neurology 67:1912-3. 2006 - Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndromeFrank J Probst
Am J Med Genet A 131:209-12. 2004 - Complicated autosomal recessive hereditary spastic paraplegia: a complex picture is emergingPeter Hedera
Neurology 70:1375-6. 2008
Research Grants
- Hereditary spastic paraplegia linked to chromosomes 8qPeter Hedera; Fiscal Year: 2006..I will characterize the phenotype of transgenic animals. The study of a transgenic animal model will further enhance current state of knowledge about the pathophysiology of HSP and axonal degeneration. ..