Affiliation: University of Graz
- Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a reviewMichaela Auer-Grumbach
Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
Arch Neurol 60:329-34. 2003..In this review, we discuss the hallmark features associated with the distinct genetic subtypes of autosomal dominant inherited HSN and provide genotype-phenotype correlations...
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Ying Zhang Chen
Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 74:1128-35. 2004..These observations of ALS4 suggest that mutations in SETX may cause neuronal degeneration through dysfunction of the helicase activity or other steps in RNA processing...
- Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL geneGabriel Miltenberger-Miltenyi
Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A 6020 Innsbruck, Austria
Arch Neurol 64:966-70. 2007..NEFL mutations were found to be associated with axonal and demyelinating variants of CMT...
- Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I lociM Auer-Grumbach
Department of Neurology, Karl Franzens University Graz, Austria
Neurology 54:45-52. 2000..To elucidate genetic heterogeneity in ulcero-mutilating neuropathy...
- Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic studyM Auer-Grumbach
Department of Neurology, Karl Franzens University, Institute of Medical Biology and Human Genetics, Graz, Austria
Brain 123:1612-23. 2000..Finally, molecular genetic studies demonstrate genetic heterogeneity, suggesting the existence of at least a second genetic subtype in HMN V...
- Clinical predominance of proximal upper limb weakness in CMT1A syndromeM Auer-Grumbach
Department of Neurology, Karl Franzens University, Graz, Austria
Muscle Nerve 23:1243-9. 2000..The unusual phenotype cannot be explained by the concomitant presence of FSHD despite some evidence for coexistance in one individual...
- Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ geneM Auer-Grumbach
Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Austria
Neurology 61:1435-7. 2003..Previously, chronic polyradiculoneuritis was assumed in two patients. Molecular genetic testing and particularly screening for MPZ mutations in late onset neuropathies are important to differentiate acquired and inherited neuropathies...
- Troyer syndrome: a combination of central brain abnormality and motor neuron disease?M Auer-Grumbach
Department of Neurology, Karl Franzens University Graz, Austria
J Neurol 246:556-61. 1999....
- Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carpal tunnel: a prospective study of 450 handsW N Loscher
Department of Neurology, Karl Franzens University of Graz, Austria
J Neurol 247:530-4. 2000....
- Hereditary sensory neuropathiesMichaela Auer-Grumbach
Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria
Drugs Today (Barc) 40:385-94. 2004..They will also be the basis for functional studies in the future...
- Molecular genetics of hereditary sensory neuropathiesMichaela Auer-Grumbach
Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstrasse 24, A 8010 Graz, Austria
Neuromolecular Med 8:147-58. 2006..Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes...
- Hereditary sensory neuropathy type IMichaela Auer-Grumbach
Institute of Human Genetics, Graz, Austria
Orphanet J Rare Dis 3:7. 2008..The disorder is slowly progressive and does not influence life expectancy but is often severely disabling after a long duration of the disease...
- Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana Ivanova
Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria
Arch Neurol 64:706-13. 2007..To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia...
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick
Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
Brain 131:1217-27. 2008....
- Recent advances in hereditary sensory and autonomic neuropathiesKristien Verhoeven
Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
Curr Opin Neurol 19:474-80. 2006..This review summarizes the genetic advances of hereditary sensory neuropathies and hereditary sensory and autonomic neuropathies, and provides information on phenotype-genotype correlation and on possible underlying pathomechanisms...
- Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeBarbara Rohkamm
Institute of Human Genetics, Medical University Graz, Austria
J Neurol Sci 263:100-6. 2007..Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS...
- MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien Verhoeven
Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen, Belgium
Brain 129:2093-102. 2006..In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population...
- Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutationMichaela Auer-Grumbach
Institute of Medical Biology and Human Genetics, Medical University Graz, Harachgasse 21 8, A 08010 Graz, Austria
Ann Neurol 57:415-24. 2005..Sensory nerve conduction studies were rarely pathological. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders...
- Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov
Department of Psychiatry, New York State Psychiatric Institute Research Foundation for Mental Hygiene, Unit 28, 1051 Riverside Drive, New York, New York 10032, USA
Nat Genet 36:602-6. 2004..Cotransfection of neurofilament light chain (NEFL) and mutant HSPB1 resulted in altered neurofilament assembly in cells devoid of cytoplasmic intermediate filaments...
- Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger
Institute of Medical Biology and Human Genetics, Medical University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
Nat Genet 36:271-6. 2004..We show that seipin is an integral membrane protein of the endoplasmic reticulum (ER). The amino acid substitutions N88S and S90L affect glycosylation of seipin and result in aggregate formation leading to neurodegeneration...
- Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing Jen Lee
Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
Hum Mol Genet 12:1917-25. 2003..This is the first report of a mutation in a molecular chaperonin causing a hereditary neuropathy and raises the possibility that mis-folding proteins may be a cause of this group of neuropathies...
- Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathyKristien Verhoeven
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born Bunge Foundation, University of Antwerp, Antwerp, Belgium
Am J Hum Genet 72:722-7. 2003..The alignment of RAB7 orthologs shows that both missense mutations target highly conserved amino acid residues. RAB7 is ubiquitously expressed, and we found expression in sensory and motor neurons...
- Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathyJennifer L Dawkins
Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Concord Hospital, NSW 2139, Australia
Neuromuscul Disord 12:656-8. 2002..No mutations in the SPTLC2 gene were found in any family. These results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies...
- Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644CJulia Rankin
Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
Am J Med Genet A 146:1530-42. 2008..This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation. Possible explanations for these observations are discussed...