Progressive ataxia of Charolais cattle associated with a myelin disorder

1972 ◽  
Vol 91 (24) ◽  
pp. 592-594 ◽  
Author(s):  
A. Palmer ◽  
W. Blakemore ◽  
R. Barlow ◽  
J. Fraser ◽  
A. Ogden
Keyword(s):  
Progressive Ataxia ◽  
Charolais Cattle

Progressive ataxia of Charolais cattle associated with disordered myelin

1974 ◽  
Vol 29 (2) ◽  
pp. 127-138 ◽  
Author(s):  
W. F. Blakemore ◽  
A. C. Palmer ◽  
R. M. Barlow
Keyword(s):  
Progressive Ataxia ◽  
Charolais Cattle

Progressive Ataxia in Charolais Cattle

1977 ◽  
Vol 14 (5) ◽  
pp. 535-537 ◽  
Author(s):  
C. S. Patton
Keyword(s):  
Progressive Ataxia ◽  
Charolais Cattle

scholarly journals Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination

PLoS Genetics ◽  
2018 ◽  
Vol 14 (8) ◽  
pp. e1007550 ◽  
Author(s):  
Amandine Duchesne ◽  
Anne Vaiman ◽  
Magali Frah ◽  
Sandrine Floriot ◽  
Sabrina Legoueix-Rodriguez ◽  
...  
Keyword(s):  
Progressive Ataxia ◽  
Charolais Cattle

PROGRESSIVE ATAXIA IN CHAROLAIS CATTLE

1982 ◽  
Vol 58 (1) ◽  
pp. 32-32 ◽  
Author(s):  
R. C. W. DANIEL ◽  
W. R. KELLY
Keyword(s):  
Progressive Ataxia ◽  
Charolais Cattle

Progressive ataxia in Charolais cattle

1974 ◽  
Vol 94 (23) ◽  
pp. 555-555 ◽  
Author(s):  
A. Ogden ◽  
A. Palmer ◽  
W. Blakemore
Keyword(s):  
Progressive Ataxia ◽  
Charolais Cattle

scholarly journals Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Mahjabin Islam ◽  
Nigel Hoggard ◽  
Marios Hadjivassiliou
Keyword(s):  
Chenodeoxycholic Acid ◽  
Clinical Characteristics ◽  
Spastic Paraparesis ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Cerebrotendinous Xanthomatosis ◽  
Juvenile Onset ◽  
Progressive Ataxia ◽  
Classical Triad ◽  
High Index Of Suspicion

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurometabolic disorder of lipid storage and bile acid synthesis. Whilst CTX is said to present with the classic triad of juvenile onset cataracts, tendon xanthomata and progressive ataxia, the diversity of presentation can be such that the diagnosis may be substantially delayed resulting in permanent neurological disability. Methods A retrospective review of the clinical characteristics and imaging findings of 4 patients with CTX presenting to the Sheffield Ataxia Centre over a period of 25 years. Results Although CTX-related symptoms were present from childhood, the median age at diagnosis was 39 years. Only 1 of the 4 cases had tendon xanthomata, only 2 cases had juvenile onset cataracts and 3 had progressive ataxia with one patient presenting with spastic paraparesis. Serum cholestanol was elevated in all 4 patients, proving to be a reliable diagnostic tool. In addition, cholestanol was raised in the CSF of 2 patients who underwent lumbar puncture. Despite treatment with chenodeoxycholic acid (CDCA) and normalization of serum cholestanol, CSF cholestanol remained high in one patient, necessitating increase in the dose of CDCA. Further adjustments to the dose of CDCA in the patient with raised CSF cholestanol resulted in slowing of progression. Two of the patients who have had the disease for the longest continued to progress, one subsequently dying from pneumonia. Conclusion A high index of suspicion for CTX, even in the absence of the classical triad is essential in reaching such diagnosis. The earlier the diagnosis and treatment, the better the outcome.

scholarly journals Age-dependent ataxia and neurodegeneration caused by an αII spectrin mutation with impaired regulation of its calpain sensitivity

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Arkadiusz Miazek ◽  
Michał Zalas ◽  
Joanna Skrzymowska ◽  
Bryan A. Bogin ◽  
Krzysztof Grzymajło ◽  
...  
Keyword(s):  
Neuronal Development ◽  
Neuronal Membrane ◽  
Post Translational Modifications ◽  
Calcium Dependent ◽  
Enhanced Sensitivity ◽  
Embryonic Lethal ◽  
Progressive Ataxia ◽  
Substrate Level ◽  
Age Dependent ◽  
Excessive Activation

AbstractThe neuronal membrane-associated periodic spectrin skeleton (MPS) contributes to neuronal development, remodeling, and organization. Post-translational modifications impinge on spectrin, the major component of the MPS, but their role remains poorly understood. One modification targeting spectrin is cleavage by calpains, a family of calcium-activated proteases. Spectrin cleavage is regulated by activated calpain, but also by the calcium-dependent binding of calmodulin (CaM) to spectrin. The physiologic significance of this balance between calpain activation and substrate-level regulation of spectrin cleavage is unknown. We report a strain of C57BL/6J mice harboring a single αII spectrin point mutation (Sptan1 c.3293G > A:p.R1098Q) with reduced CaM affinity and intrinsically enhanced sensitivity to calpain proteolysis. Homozygotes are embryonic lethal. Newborn heterozygotes of either gender appear normal, but soon develop a progressive ataxia characterized biochemically by accelerated calpain-mediated spectrin cleavage and morphologically by disruption of axonal and dendritic integrity and global neurodegeneration. Molecular modeling predicts unconstrained exposure of the mutant spectrin’s calpain-cleavage site. These results reveal the critical importance of substrate-level regulation of spectrin cleavage for the maintenance of neuronal integrity. Given that excessive activation of calpain proteases is a common feature of neurodegenerative disease and traumatic encephalopathy, we propose that damage to the spectrin MPS may contribute to the neuropathology of many disorders.

scholarly journals A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough

2006 ◽  
Vol 33 (2) ◽  
pp. 243-245 ◽  
Author(s):  
Sandrine Larue ◽  
Steve Verreault ◽  
Peter Gould ◽  
Michael B. Coulthart ◽  
Catherine Bergeron ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Mutation Screening ◽  
Disease Onset ◽  
Visual Hallucinations ◽  
Progressive Dementia ◽  
Gene Encoding ◽  
Progressive Ataxia ◽  
Persistent Cough ◽  
Jakob Disease ◽  
Classical Triad

ABSTRACT:Background:Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.Case Report:Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.Conclusions:The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.

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