Research Topics
Genomes and GenesSpecies | John K FinkSummaryAffiliation: University of Michigan Country: USA Publications
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Publications
Advances in the hereditary spastic paraplegiasJohn K Fink
Department of Neurology, University of Michigan and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MI, USA
Exp Neurol 184:S106-10. 2003..Twenty HSP loci and nine HSP genes have been discovered. This progress has yielded new insights into the diverse molecular pathogenesis that underlies these clinically similar disorders...- Hereditary spastic paraplegiaJohn K Fink
Department of Neurology, University of Michigan, Geriatric Research Education and Care Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MI, USA
Neurol Clin 20:711-26. 2002..Nonetheless, the identification of these genes and the ability to generate animal models of these forms of HSP will permit direct exploration of the molecular basis of HSP... - Hereditary spastic paraplegiaJohn K Fink
Department of Neurology, University of Michigan and the Geriatric Research Education and Clinical Care Center of the Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MI 48109 0940, USA
Curr Neurol Neurosci Rep 6:65-76. 2006..Prenatal genetic testing in HSP is possible for some individuals with the increasing availability of HSP gene analysis... - The hereditary spastic paraplegias: nine genes and countingJohn K Fink
Department of Neurology, University of Michigan, 5214 Cancer Geriatrics Center Bldg, Box 0940, 1500 E Medical Center Drive, Ann Arbor, MI 48109, USA
Arch Neurol 60:1045-9. 2003..Insights into the molecular causes of HSPs are beginning to emerge. This review summarizes these advances in HSPs' genetics... 
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index familiesShirley Rainier
Department of Neurology, University of Michigan, 5013 BSRB, 109 Zina Pitcher Place, Ann Arbor, Michigan 48109, USA
Muscle Nerve 43:19-25. 2011..Motor neuron degeneration in subjects with NTE mutations supports the role of NTE and its biochemical cascade in the molecular pathogenesis of OPIDN and possibly other degenerative neurologic disorders...- Treatment of Wilson's disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientineGeorge J Brewer
Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA
Transl Res 154:70-7. 2009..Tetrathiomolybdate controlled copper less well in the dose regimen study (study 3) than in the previous 2 studies of tetrathiomolybdate treatment, probably because of a change in the way "away from food" tetrathiomolybdate was given... - Motor neuron disease due to neuropathy target esterase mutation: enzyme analysis of fibroblasts from human subjects yields insights into pathogenesisNichole D Hein
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
Toxicol Lett 199:1-5. 2010.... 
Neuropathy target esterase gene mutations cause motor neuron diseaseShirley Rainier
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
Am J Hum Genet 82:780-5. 2008....- Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic propertiesNichole D Hein
Department of Neurology, University of Michigan, Ann Arbor, MI 48109 2029, USA
Toxicol Lett 196:67-73. 2010..Taken together, the results from specific activity, inhibition, and aging experiments suggest that the mutations found in association with NTE-MND have functional correlates in altered enzymological properties of NTE... - De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsyShirley Rainier
Department of Neurology, University of Michigan, Ann Arbor, USA
Arch Neurol 63:445-7. 2006..Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported... - 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... - Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegiaRoger L Albin
Geriatrics Research, Education, and Clinical Center, Ann Arbor VAHS, Ann Arbor, Michigan 48109 2200, USA
J Neurogenet 22:289-94. 2008..This major difference between human SPG3A/atlastin-1 mutations and the Drosophila atl(l) phenotype has several possible explanations... - Porphyric neuropathyJames W Albers
Department of Neurology, 1C325 0032 University Hospital, University of Michigan Health System, 1500 East Medical Center Drive, Ann Arbor 48109 0032, USA
Muscle Nerve 30:410-22. 2004..The severity of the neuropathy and the availability of potential treatments, including avoidance of provocative factors, make identification important... - 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... - Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosisShirley Rainier
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
Arch Neurol 61:1025-9. 2004.... - Motor neuron disease due to neuropathy target esterase gene mutation: Clinical features of the index familiesShirley Rainier
Department of Neurology, University of Michigan, 5013 BSRB, 109 Zina Pitcher Place, Ann Arbor, Michigan 48109, USA
Muscle Nerve 43:19-25. 2011..Motor neuron degeneration in subjects with NTE mutations supports the role of NTE and its biochemical cascade in the molecular pathogenesis of OPIDN and possibly other degenerative neurologic disorders. Muscle Nerve, 2011... - Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognizedMatthew T Lorincz
Department of Neurology, University of Michigan, Ann Arbor, 48109, USA
Arch Neurol 62:1459-63. 2005..Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurodegenerative disorder caused by 27-sterol hydroxylase (CYP27) deficiency... - Neuropathy target esterase (NTE): overview and futureRudy J Richardson
Toxicology Program, University of Michigan, Ann Arbor, MI 48109, USA Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA Electronic address
Chem Biol Interact 203:238-44. 2013.... - 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... - NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)Shirley Rainier
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
Am J Hum Genet 73:967-71. 2003..Identification of the NIPA1 function and ligand will aid an understanding of axonal neurodegeneration in HSP and may have important therapeutic implications... - 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... - White matter changes in Wilson diseasePeter Hedera
Department of Neurology, University of Michigan Medical Center, Ann Arbor, Mich 48109-0940, USA
Arch Neurol 59:866-7. 2002 - Hereditary spastic paraplegia: spastin phenotype and functionJohn K Fink
Arch Neurol 61:830-3. 2004 - Hereditary spastic paraplegia: the pace quickensJohn K Fink
Ann Neurol 51:669-72. 2002
Research Grants
- Paroxysmal dystonic choreoathetosisJohn Fink; Fiscal Year: 2003..abstract_text> ..
- Hereditary Spastic Paraplegia due to SPG3A/atlastin mutationJohn Fink; Fiscal Year: 2007....
- International Symposium for Hereditary Spastic ParaplegiaJohn Fink; Fiscal Year: 2007....
- HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,John Fink; Fiscal Year: 2001..abstract_text> ..
- Hereditary Spastic Paraplegia due to SPG3A/atlastin mutationJohn Fink; Fiscal Year: 2009....