scholarly journals Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect?

2013 ◽  
Vol 16 (4) ◽  
pp. 705
Author(s):  
KoneruLakshmi Umamaheshwar ◽  
Amit Sehrawat ◽  
ManojK Parashar ◽  
Kshitij Mavade
2014 ◽  
Vol 8 (1) ◽  
pp. 83-86 ◽  
Author(s):  
Ricardo Nitrini

ABSTRACT The occurrence of dementia in amyotrophic lateral sclerosis (ALS) was only widely recognized in the late 20th century. Hitherto, it was believed that dementia was a rare event due to the fortuitous association with other diseases. In 1924, Kostantin Nikolaevich Tretiakoff and Moacyr de Freitas Amorim reported a case of dementia with features of frontotemporal dementia (FTD) that preceded the motor signs of ALS. Neuropathological examination confirmed ALS and found no signs of other dementia-causing diseases. The authors hypothesized that dementia was part of ALS and recommended the search for signs of involvement of motor neurons in cases of dementia with an ill-defined clinical picture, a practice currently accepted in the investigation of cases of FTD. This was one of the first descriptions of dementia preceding the motor impairments of ALS and was published in Portuguese and French in Memórias do Hospício de Juquery.


2021 ◽  
Author(s):  
Sergio Castro-Gomez ◽  
Barbara Radermacher ◽  
Pawel Tacik ◽  
Sandra R. Mirandola ◽  
Michael T. Heneka ◽  
...  

AbstractAmyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive loss of upper and lower motor neurons. Diagnosis, management and therapeutic trials are hampered by a lack of informative biomarkers. Troponins (Tn) are components of skeletal and cardiac muscles. Acute elevation of cardiac isoforms of troponin I (cTnI) and T (cTnT) in serum indicates myocardial injury. Case reports suggested that serum levels of cTnT, but not cTnI are chronically elevated in ALS and other neuromuscular disorders.Using standard clinical laboratory methodologies we studied serum troponin levels in a multicentric cross-sectional cohort of 75 ALS patients and sixty controls (DESCRIBE-ALS cohort) and in a real-world cohort of 179 consecutive patients from our ALS clinic at the University Hospital Bonn.We found that serum cTnT, is elevated in >60% of ALS patients while cTnI is always normal. Serum cTnT levels increase over time and correlate with disease severity as measured with the revised ALS FRS score. There was no correlation with the phosphorylated neurofilament heavy chain (pNfH) levels in the cerebrospinal fluid. We propose that cTnT elevations in ALS are of non-cardiac origin and may serve as a proxy of lower motor neuron or skeletal muscle involvement. They potentially help to stratify patients according to lower motoneuron involvement. Further research will determine the biological origin of the cTnT elevation and its validity as a diagnostic and/or prognostic marker. Our finding also serves as a reminder to interpret cTnT with caution elevations in patients with neuromuscular diseases.


2016 ◽  
Vol 26 (6) ◽  
pp. 342-346 ◽  
Author(s):  
Maria del Mar Amador ◽  
Nadia Vandenberghe ◽  
Nawel Berhoune ◽  
Jean-Philippe Camdessanché ◽  
Sophie Gronier ◽  
...  

2018 ◽  
Vol 393 ◽  
pp. 58-62 ◽  
Author(s):  
Maria Chondrogianni ◽  
Marianna Bregianni ◽  
Frantzeska Frantzeskaki ◽  
Evangelos Giamarellos-Bourboulis ◽  
Evangelos Anagnostou ◽  
...  

2008 ◽  
Vol 126 (4) ◽  
pp. 223-224 ◽  
Author(s):  
Hélio Afonso Ghizoni Teive ◽  
Ricardo William Genaro Rodrigues de Campos ◽  
Renato Puppi Munhoz ◽  
Lineu César Werneck

CONTEXT AND OBJECTIVE: Pressure ulcers are lesions caused by inadequate blood flow and tissue malnourishment secondary to prolonged pressure on skin, soft connective tissues, muscle and/or bones. The authors report two distinct clinical situations of severely compromised neurological patients who shared several predisposing factors for pressure ulcers, but with opposite outcomes regarding the development of pressure ulcers. CASE REPORTS: The first case was a young patient in a persistent vegetative state who developed pressure ulcers that resulted in secondary sepsis and death. The second case was a patient with a diagnosis of amyotrophic lateral sclerosis who, in spite of being bedridden for several months with severe immobility, never developed pressure ulcers. These intriguing contrary clinical situations had already been defined by Charcot in the nineteenth century, with his creation of the expression "decubitus ominosus". He indicated that patients with amyotrophic lateral sclerosis usually did not develop this form of complication, as was illustrated by the cases presented here.


2021 ◽  
Author(s):  
P. J. J. Mandigers ◽  
F. G. Van Steenbeek ◽  
W. Bergmann ◽  
M. Vos-Loohuis ◽  
P. A. Leegwater

AbstractA juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated within weeks and elective euthanasia was performed. Pedigree analysis indicated autosomal recessive inheritance. Genome-wide association and homozygosity mapping of 5 affected dogs from 3 litters identified the associated locus on chromosome 31 in the region of SOD1. The DNA sequence analysis of SOD1 showed that the patients were homozygous for a frameshift mutation in the fourth codon. None of the other analyzed dogs of the breed was homozygous for the mutation, indicating full penetrance of the genetic defect. Mutations in SOD1 are known to cause recessive degenerative myelopathy in middle-aged dogs with low penetrance and dominant amyotrophic lateral sclerosis in humans with variable age of onset. Our findings are similar to recent observations in human patients that a loss of function mutation in SOD1 leads to a juvenile neurologic disease distinct from amyotrophic lateral sclerosis.


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