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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature156293
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Publication Type
Article
Date
Aug-2008
Author
Wendy J Broom
Matthew Greenway
Ghazaleh Sadri-Vakili
Carsten Russ
Kristen E Auwarter
Kelly E Glajch
Nicolas Dupre
Robert J Swingler
Shaun Purcell
Caroline Hayward
Peter C Sapp
Diane McKenna-Yasek
Paul N Valdmanis
Jean-Pierre Bouchard
Vincent Meininger
Betsy A Hosler
Jonathan D Glass
Meraida Polack
Guy A Rouleau
Jang-Ho J Cha
Orla Hardiman
Robert H Brown
Author Affiliation
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. wendy.broom@gmail.com
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Age of Onset
Amyotrophic Lateral Sclerosis - enzymology - epidemiology - genetics
Base Sequence
DNA Mutational Analysis
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Homozygote
Humans
Ireland - epidemiology
Male
Middle Aged
Phenotype
Polymorphism, Genetic
Promoter Regions, Genetic
Quebec - epidemiology
Risk factors
Scotland - epidemiology
Sequence Deletion
Sp1 Transcription Factor - metabolism
Superoxide Dismutase - genetics - metabolism
United States - epidemiology
Abstract
The objective was to test the hypothesis that a described association between homozygosity for a 50bp deletion in the SOD1 promoter 1684bp upstream of the SOD1 ATG and an increased age of onset in SALS can be replicated in additional SALS and control sample sets from other populations. Our second objective was to examine whether this deletion attenuates expression of the SOD1 gene. Genomic DNA from more than 1200 SALS cases from Ireland, Scotland, Quebec and the USA was genotyped for the 50bp SOD1 promoter deletion. Reporter gene expression analysis, electrophoretic mobility shift assays and chromatin immunoprecipitation studies were utilized to examine the functional effects of the deletion. The genetic association for homozygosity for the promoter deletion with an increased age of symptom onset was confirmed overall in this further study (p=0.032), although it was only statistically significant in the Irish subset, and remained highly significant in the combined set of all cohorts (p=0.001). Functional studies demonstrated that this polymorphism reduces the activity of the SOD1 promoter by approximately 50%. In addition we revealed that the transcription factor SP1 binds within the 50bp deletion region in vitro and in vivo. Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations.
PubMed ID
18608091 View in PubMed
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The 4154delA mutation carriers in the BRCA1 gene share a common ancestry.

https://arctichealth.org/en/permalink/ahliterature153810
Source
Fam Cancer. 2009;8(1):1-4
Publication Type
Article
Date
2009
Author
Silvija Ozolina
Olga Sinicka
Eriks Jankevics
Inna Inashkina
Jan Lubinski
Bohdan Gorski
Jacek Gronwald
Tatyana Nasedkina
Olga Fedorova
Ludmila Lyubchenko
Laima Tihomirova
Author Affiliation
Latvian Biomedical Research and Study Centre, Ratsupites str. 1, Riga, 1067, Latvia.
Source
Fam Cancer. 2009;8(1):1-4
Date
2009
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
DNA Mutational Analysis
Female
Founder Effect
Genes, BRCA1
Genetic Predisposition to Disease
Haplotypes
Humans
Latvia
Male
Microsatellite Repeats
Mutation
Pedigree
Poland
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Russia
Abstract
Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.
PubMed ID
19067236 View in PubMed
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[Activated protein C resistance as a cause of thrombophilia]

https://arctichealth.org/en/permalink/ahliterature64478
Source
Rev Invest Clin. 1996 May-Jun;48(3):223-9
Publication Type
Article
Author
G J Ruiz-Argüelles
Author Affiliation
Laboratorios Clínicos de Puebla, México.
Source
Rev Invest Clin. 1996 May-Jun;48(3):223-9
Language
Spanish
Publication Type
Article
Keywords
Antithrombin III - analysis
Blood Coagulation Factors - analysis - physiology
DNA Mutational Analysis
English Abstract
Enzyme Activation
Factor V - genetics
Factor V Deficiency - complications - epidemiology
Female
Humans
Male
Mexico - epidemiology
Partial Thromboplastin Time
Phenotype
Pregnancy
Pregnancy Complications, Hematologic - epidemiology - etiology
Prevalence
Protein C - physiology
Protein S - analysis
Thrombosis - blood - genetics
Abstract
The proportion of identifiable causes of familial thrombophilia has increased from 5-10% to 60-70% since the identification of activated protein C resistance (aPCR) in February 1993 by Dahlbäck et al. A mutation in the factor V gene (G-->A, 1691) leads to the so called Leiden mutation (R 506 Q) that produces a mutated factor V resistant to the catalytic action of activated protein C (aPC), yet normal in its procoagulant properties. This recently identified aPCR is in Nordic populations the most prevalent and well defined genetic defect associated with disease so far described. Its prevalence in the general population ranges from 0% to up to 15% and suggests that a positive genetic selection pressure has been involved. The aPCR phenotype can be assessed in vitro by measurement of the prolongation of the activated partial thromboplastin time in the presence of aPC, whereas the aPCR genotype is studied using polymerase chain reaction searching for the Arg to Gln mutation in the coagulation factor V gene. Some acquired conditions such as the presence of lupus anticoagulants, antiphospholipid antibodies, pregnancy, liver disease and contraceptives may lead into the aPCR phenotype. The aPCR search must be the initial step in the study of a patient with thrombophilia, either inherited or acquired aPCR together with protein C, protein S and antithrombin III explain 60 to 70% of cases of familial thrombophilia.
PubMed ID
8966383 View in PubMed
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Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

https://arctichealth.org/en/permalink/ahliterature9889
Source
Clin Genet. 2002 Oct;62(4):288-97
Publication Type
Article
Date
Oct-2002
Author
Y. Floderus
P M Shoolingin-Jordan
P. Harper
Author Affiliation
Porphyria Centre Sweden, Huddinge University Hospital, Stockholm, Sweden.
Source
Clin Genet. 2002 Oct;62(4):288-97
Date
Oct-2002
Language
English
Publication Type
Article
Keywords
Codon, Nonsense
DNA Mutational Analysis
Exons
Female
Genetic Screening
Humans
Hydroxymethylbilane Synthase - blood - chemistry - genetics
Male
Mutation, Missense
Porphyria, Acute Intermittent - genetics - physiopathology
Research Support, Non-U.S. Gov't
Sweden
Abstract
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficit of porphobilinogen deaminase (PBGD), the third of eight enzymes in the haem biosynthetic pathway. The overt disease is characterized by neuropsychiatric symptoms that are often triggered by exogenous factors such as certain drugs, stress, and alcohol. The aim of this work has been to identify the underlying genetic defect in each AIP-affected family in order to provide early counselling to assist in the avoidance of precipitating factors. The prevalence of AIP in Sweden is in the order of 1:10 000. The major mutation in Sweden, W198X, is due to a founder effect in the northern part of the country. This mutation, together with a further 11 mutations, have been reported previously. The present communication encompasses the great majority of AIP kindreds in Sweden and includes a further 27 mutations within the PBGD gene. This includes 14 completely new mutations, as well as 11 known mutations detected for the first time in Sweden. The majority of the mutations are located in exons 10 and 12 with fewer in exon 7. The clinical and biochemical outcomes in some patients are described. We also use the three-dimensional structure of the porphobilinogen deaminase enzyme to predict the possible molecular and functional consequences of the new Swedish missense and nonsense mutations.
PubMed ID
12372055 View in PubMed
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Acute liver failure meets SOPH syndrome: A case report on an intermediate phenotype.

https://arctichealth.org/en/permalink/ahliterature283558
Source
Pediatrics. 2017 Jan;139(1)
Publication Type
Article
Date
Jan-2017
Author
Fanny Kortüm
Iris Marquardt
Malik Alawi
Georg Christoph Korenke
Stephanie Spranger
Peter Meinecke
Kerstin Kutsche
Source
Pediatrics. 2017 Jan;139(1)
Date
Jan-2017
Language
English
Publication Type
Article
Keywords
Alleles
Child, Preschool
DNA Mutational Analysis
Developmental Disabilities - diagnosis - genetics
Dwarfism - diagnosis - genetics
Exome - genetics
Female
Heterozygote Detection
Humans
Liver Failure, Acute - diagnosis - genetics
Mutation, Missense - genetics
Neoplasm Proteins - deficiency - genetics
Optic Atrophy - diagnosis - genetics
Pelger-Huet Anomaly - diagnosis - genetics
Phenotype
Syndrome
Abstract
Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises hepatic dysfunction, elevated liver biochemical values, and coagulopathy. The etiology of ALF remains unclear in most affected children; however, the recent identification of mutations in the neuroblastoma amplified sequence (NBAS) gene in autosomal recessively inherited ALF has shed light on the cause of a subgroup of fever-triggered pediatric ALF episodes. Previously, biallelic mutations in NBAS have been reported to be associated with a syndrome comprising short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) specifically occurring in the Yakut population. No hepatic phenotype has been observed in individuals with this disorder who all carry the homozygous NBAS founder mutation c.5741G>A [p.(Arg1914His)]. We present the case of a 4-year-old girl with the cardinal features of SOPH syndrome: characteristic facial dysmorphism, postnatal growth retardation, delay of bone age, slender long bones, optic atrophy, and Pelger-Huët anomaly. During the first 2 years of her life, a series of infections with episodes of fever were accompanied by elevated liver enzyme levels, but hyperammonemia, hypoglycemia, coagulopathy, or encephalopathy suggestive of acute and severe liver disease were never observed. Whole exome sequencing in the patient revealed compound heterozygosity of the 2 NBAS variants, p.(Arg1914His) and p.(Glu943*). This case highlights the variability of clinical presentation associated with NBAS deficiency. Absence of severe liver problems in this case and SOPH-affected Yakut subjects suggests that individuals carrying the NBAS missense mutation p.(Arg1914His) are less susceptible to developing ALF.
PubMed ID
28031453 View in PubMed
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Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous.

https://arctichealth.org/en/permalink/ahliterature173270
Source
J Clin Oncol. 2005 Aug 20;23(24):5651-9
Publication Type
Article
Date
Aug-20-2005
Author
Elise T Renkonen
Pekka Nieminen
Wael M Abdel-Rahman
Anu-Liisa Moisio
Irma Järvelä
Sirpa Arte
Heikki J Järvinen
Päivi Peltomäki
Author Affiliation
Department of Medical Genetics, Institute of Dentistry, Biomedicum Helsinki, PO Box 63 (Haartmaninkatu 8), FIN-00014 University of Helsinki, Helsinki, Finland.
Source
J Clin Oncol. 2005 Aug 20;23(24):5651-9
Date
Aug-20-2005
Language
English
Publication Type
Article
Keywords
Adenomatous Polyposis Coli - genetics
Adult
DNA Mutational Analysis
Exons
Family Health
Female
Finland
Genes, APC
Genetic Linkage
Germ-Line Mutation
Haplotypes
Humans
Loss of Heterozygosity
Male
Middle Aged
Registries
Abstract
One third of families with classical adenomatous polyposis (FAP), and a majority of those with attenuated FAP (AFAP), remain APC mutation-negative by conventional methods. Our purpose was to clarify the genetic basis of polyposis and genotype-phenotype correlations in such families.
We studied a cohort of 29 adenomatous polyposis families that had screened APC mutation-negative by the protein truncation test, heteroduplex analysis, and exon-specific sequencing. The APC gene was investigated for large genomic rearrangements by multiplex ligation-dependent probe amplification (MLPA), and for allelic mRNA expression by single nucleotide primer extension (SNuPE). The AXIN2 gene was screened for mutations by sequencing.
Four families (14%) showed a constitutional deletion of the entire APC gene (three families) or a single exon (one family). Seven families (24%) revealed reduced or extinct mRNA expression from one APC allele in blood, accompanied by loss of heterozygosity in the APC region in six (75%) of eight tumors. In 15 families (52%), possible APC involvement could be neither confirmed nor excluded. Finally, as detailed elsewhere, three families (10%) had germline mutations in genes other than APC, AXIN2 in one family, and MYH in two families.
"APC mutation-negative" FAP is genetically heterogeneous, and a combination of MLPA and SNuPE is able to link a considerable proportion (38%) to APC. Significant differences were observed in clinical manifestations between subgroups, emphasizing the importance of accurate genetic and clinical characterization for the proper management of such families.
PubMed ID
16110024 View in PubMed
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Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer.

https://arctichealth.org/en/permalink/ahliterature100644
Source
Breast Cancer Res Treat. 2010 Sep;123(2):491-8
Publication Type
Article
Date
Sep-2010
Author
Kerryn W Reding
Jonine L Bernstein
Bryan M Langholz
Leslie Bernstein
Robert W Haile
Colin B Begg
Charles F Lynch
Patrick Concannon
Ake Borg
Sharon N Teraoka
Therese Törngren
Anh Diep
Shanyan Xue
Lisbeth Bertelsen
Xiaolin Liang
Anne S Reiner
Marinela Capanu
Kathleen E Malone
Author Affiliation
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Mail Stop M4-B874, Seattle, WA 98109-1024, USA. kreding@u.washington.edu
Source
Breast Cancer Res Treat. 2010 Sep;123(2):491-8
Date
Sep-2010
Language
English
Publication Type
Article
Keywords
Adult
Antineoplastic Combined Chemotherapy Protocols - therapeutic use
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast Neoplasms - drug therapy - genetics - pathology
Case-Control Studies
Chemotherapy, Adjuvant
DNA Mutational Analysis
Denmark
Female
Humans
Likelihood Functions
Logistic Models
Middle Aged
Mutation
Neoplasm Recurrence, Local - genetics - prevention & control
Registries
Risk assessment
Risk factors
SEER Program
Tamoxifen - administration & dosage
Treatment Outcome
United States
Young Adult
Abstract
Given the greatly elevated risks of contralateral breast cancer (CBC) observed in breast cancer patients who carry mutations in BRCA1 and BRCA2, it is critical to determine the effectiveness of standard adjuvant therapies in preventing CBC in mutation carriers. The WECARE study is a matched, case-control study of 708 women with CBC as cases and 1,399 women with unilateral breast cancer (UBC) as controls, including 181 BRCA1/BRCA2 mutation carriers. Interviews and medical record reviews provided detailed information on risk factors and breast cancer therapy. All study participants were screened for BRCA1 and BRCA2 mutations using denaturing high-performance liquid chromatography (DHPLC) to detect genetic variants in the coding and flanking regions of the genes. Conditional logistic regression was used to compare the risk of CBC associated with chemotherapy and tamoxifen in BRCA1/BRCA2 mutation carriers and non-carriers. Chemotherapy was associated with lower CBC risk both in non-carriers (RR = 0.6 [95% CI: 0.5-0.7]) and carriers (RR = 0.5 [95% CI: 0.2-1.0]; P value = 0.04). Tamoxifen was associated with a reduced CBC risk in non-carriers (RR = 0.7 [95% CI: 0.6-1.0]; P value = 0.03). We observed a similar but non-significant reduction associated with tamoxifen in mutation carriers (RR = 0.7 [95% CI: 0.3-1.8]). The tests of heterogeneity comparing carriers to non-carriers did not provide evidence for a difference in the associations with chemotherapy (P value = 0.51) nor with tamoxifen (P value = 0.15). Overall, we did not observe a difference in the relative risk reduction associated with adjuvant treatment between BRCA1/BRCA2 mutation carriers and non-carriers. However, given the higher absolute CBC risk in mutation carriers, the potentially greater impact of adjuvant therapy in reducing CBC risk among mutation carriers should be considered when developing treatment plans for these patients.
PubMed ID
20135344 View in PubMed
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Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

https://arctichealth.org/en/permalink/ahliterature173849
Source
Can J Neurol Sci. 2005 May;32(2):261-3
Publication Type
Article
Date
May-2005
Author
Annie Dionne
Denis Brunet
Alexander McCampbell
Nicolas Dupré
Author Affiliation
Départment des Sciences Neurologiques, CHAUQ-Hôpital Enfant-Jésus, McGill University, QC, Canada.
Source
Can J Neurol Sci. 2005 May;32(2):261-3
Date
May-2005
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Adrenoleukodystrophy - genetics - metabolism - physiopathology
Amino Acid Sequence - genetics
Amino Acid Substitution - genetics
Chromosomes, Human, X - genetics
DNA Mutational Analysis
Diagnosis, Differential
Exons - genetics
Family Health
Female
Genetic Testing
Humans
Middle Aged
Mutation, Missense - genetics
Pedigree
Phenotype
Quebec - ethnology
Sex Factors
Abstract
X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis.
We report a novel missense mutation in the ABCD1 gene in a 47-year-old French-Canadian female with spastic paraparesis and no confirmed family history of X-linked adrenoleukodystrophy. The mutation is located on exon 1 and causes the amino acid substitution of a valine for an alanine in a region of the protein highly conserved between mouse and man.
Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. This is an initial report of an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future.
PubMed ID
16018167 View in PubMed
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Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

https://arctichealth.org/en/permalink/ahliterature272909
Source
BMC Neurol. 2015;15:223
Publication Type
Article
Date
2015
Author
Nyamkhishig Sambuughin
Lev G Goldfarb
Tatiana M Sivtseva
Tatiana K Davydova
Vsevolod A Vladimirtsev
Vladimir L Osakovskiy
Al'bina P Danilova
Raisa S Nikitina
Anastasia N Ylakhova
Margarita P Diachkovskaya
Anna C Sundborger
Neil M Renwick
Fyodor A Platonov
Jenny E Hinshaw
Camilo Toro
Source
BMC Neurol. 2015;15:223
Date
2015
Language
English
Publication Type
Article
Keywords
Adult
DNA Mutational Analysis
Dynamins - genetics
Exome
Family Health
Female
GTP Phosphohydrolases - chemistry - genetics
Genetic Variation
Hela Cells
Humans
Male
Middle Aged
Mutation
Mutation, Missense
Phenotype
Siberia
Spastic Paraplegia, Hereditary - genetics
Abstract
Hereditary Spastic Paraplegia (HSP) represents a large group of clinically and genetically heterogeneous disorders linked to over 70 different loci and more than 60 recognized disease-causing genes. A heightened vulnerability to disruption of various cellular processes inherent to the unique function and morphology of corticospinal neurons may account, at least in part, for the genetic heterogeneity.
Whole exome sequencing was utilized to identify candidate genetic variants in a four-generation Siberian kindred that includes nine individuals showing clinical features of HSP. Segregation of candidate variants within the family yielded a disease-associated mutation. Functional as well as in-silico structural analyses confirmed the selected candidate variant to be causative.
Nine known patients had young-adult onset of bilateral slowly progressive lower-limb spasticity, weakness and hyperreflexia progressing over two-to-three decades to wheel-chair dependency. In the advanced stage of the disease, some patients also had distal wasting of lower leg muscles, pes cavus, mildly decreased vibratory sense in the ankles, and urinary urgency along with electrophysiological evidence of a mild distal motor/sensory axonopathy. Molecular analyses uncovered a missense c.2155C > T, p.R719W mutation in the highly conserved GTP-effector domain of dynamin 2. The mutant DNM2 co-segregated with HSP and affected endocytosis when expressed in HeLa cells. In-silico modeling indicated that this HSP-associated dynamin 2 mutation is located in a highly conserved bundle-signaling element of the protein while dynamin 2 mutations associated with other disorders are located in the stalk and PH domains; p.R719W potentially disrupts dynamin 2 assembly.
This is the first report linking a mutation in dynamin 2 to a HSP phenotype. Dynamin 2 mutations have previously been associated with other phenotypes including two forms of Charcot-Marie-Tooth neuropathy and centronuclear myopathy. These strikingly different pathogenic effects may depend on structural relationships the mutations disrupt. Awareness of this distinct association between HSP and c.2155C > T, p.R719W mutation will facilitate ascertainment of additional DNM2 HSP families and will direct future research toward better understanding of cell biological processes involved in these partly overlapping clinical syndromes.
Notes
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PubMed ID
26517984 View in PubMed
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Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

https://arctichealth.org/en/permalink/ahliterature193155
Source
Neurology. 2001 Sep 25;57(6):1043-9
Publication Type
Article
Date
Sep-25-2001
Author
M. Rantamäki
R. Krahe
A. Paetau
B. Cormand
I. Mononen
B. Udd
Author Affiliation
Department of Neurology and the Department of Physical Medicine and Rehabilitation, Seinäjoki Central Hospital, Seinäjoki, Finland. maria.rantamaki@pp.fimnet.fi
Source
Neurology. 2001 Sep 25;57(6):1043-9
Date
Sep-25-2001
Language
English
Publication Type
Article
Keywords
Adult
Brain Stem - pathology
Cerebellum - pathology
Chromosome Aberrations - genetics
Chromosome Disorders
DNA Mutational Analysis
Female
Finland
Genes, Recessive - genetics
Genetic Markers - genetics
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Nerve Fibers, Myelinated - pathology
Pedigree
Spinocerebellar Degenerations - diagnosis - genetics - pathology
Thalamic Diseases - diagnosis - genetics - pathology
Thalamus - pathology
Abstract
To describe an unusual kindred with adult-onset ataxia and thalamic lesions detected by brain MRI.
The authors characterized clinical, laboratory, and pathologic features of the disease and sought linkage to previously recognized ataxia loci.
Two sisters and a brother developed progressive ataxia, dysarthria, mild cognitive impairment, and sensorimotor neuropathy at age 30, combined with epilepsy in one sibling. MRI showed symmetric thalamic lesions, changes in brainstem gray matter, and white matter changes in the cerebellum. Autopsy in one of the patients revealed neuronal degeneration with a peculiar vacuolar change in thalamus, probably representing transsynaptic degeneration in response to deafferentation. Neuronal and secondary tract degeneration was observed in the spinal cord, cerebellum, and brainstem suggesting a spinocerebellar degeneration. The disorder appears to be transmitted as an autosomal recessive trait. Genetic and sequence analysis of the FRDA gene and comprehensive laboratory examinations excluded Friedreich's ataxia and other similar recessive diseases.
Adult-onset recessive ataxia with bilateral thalamic lesions in this family may represent a distinct hereditary spinocerebellar ataxia.
PubMed ID
11571332 View in PubMed
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784 records – page 1 of 79.