scholarly journals A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene

2020 ◽  
Vol 7 (6) ◽  
pp. 688-692 ◽  
Author(s):  
Prashanth L. Kukkle ◽  
Thenral S. Geetha ◽  
Anita Mahadevan ◽  
Vedam L. Ramprasad
1996 ◽  
Vol 16 (2) ◽  
pp. 91-95 ◽  
Author(s):  
Kent W. Small ◽  
Stephen C. Pollock ◽  
Jeffrey M. Vance ◽  
Jeff M. Stajich ◽  
Margaret Pericak-Vance

2015 ◽  
Vol 73 (8) ◽  
pp. 725-727 ◽  
Author(s):  
Hélio Afonso Ghizoni Teive ◽  
Adriana Moro ◽  
Mariana Moscovich ◽  
Walter Oleskho Arruda ◽  
Renato Puppi Munhoz ◽  
...  

Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry. The authors report the history of SCA10 families from the south of Brazil (the states of Paraná and Santa Catarina), emphasizing the Belgian-Amerindian connection.


2020 ◽  
Vol 6 (2) ◽  
pp. e397 ◽  
Author(s):  
Dong-Hui Chen ◽  
Caitlin Latimer ◽  
Mayumi Yagi ◽  
Mesaki Kenneth Ndugga-Kabuye ◽  
Elyana Heigham ◽  
...  

ObjectiveTo identify the genetic cause of autosomal dominant ataxia complicated by behavioral abnormalities, cognitive decline, and autism in 2 families and to characterize brain neuropathologic signatures of dominant STUB1-related ataxia and investigate the effects of pathogenic variants on STUB1 localization.MethodsClinical and research-based exome sequencing was used to identify the causative variants for autosomal dominant ataxia in 2 families. Gross and microscopic neuropathologic evaluations were performed on the brains of 4 affected individuals in these families.ResultsMutations in STUB1 have been primarily associated with childhood-onset autosomal recessive ataxia, but here we report heterozygous missense variants in STUB1 (p.Ile53Thr and p.The37Leu) confirming the recent reports of autosomal dominant inheritance. Cerebellar atrophy on imaging and cognitive deficits often preceded ataxia. Unique neuropathologic examination of the 4 brains showed the marked loss of Purkinje cells (PCs) without microscopic evidence of significant pathology outside the cerebellum. The normal pattern of polarized somatodendritic STUB1 protein expression in PCs was lost, resulting in aberrant STUB1 localization in the distal PC dendritic arbors.ConclusionsThis study confirms a dominant inheritance pattern in STUB1-ataxia in addition to a recessive one and documents its association with cognitive and behavioral disability, including autism. In the most extensive analysis of cerebellar pathology in this disease, we demonstrate disruption of STUB1 protein in PCs as part of the underlying pathogenesis.


Neurology ◽  
2005 ◽  
Vol 65 (7) ◽  
pp. 1111-1113 ◽  
Author(s):  
M. F. Waters ◽  
D. Fee ◽  
K. P. Figueroa ◽  
D. Nolte ◽  
U. Muller ◽  
...  

2017 ◽  
Vol 75 (10) ◽  
pp. 748-750
Author(s):  
Bruno Carniatto Marques Garcia ◽  
Francisco Manoel Branco Germiniani ◽  
Paula Marques ◽  
Jorge Sequeiros ◽  
Hélio Afonso Ghizoni Teive

ABSTRACT Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of this disease, more than 40 years ago.


2021 ◽  
pp. 1-9
Author(s):  
Aditi Sinha ◽  
Alexander Geragotellis ◽  
Guntaj Kaur Singh ◽  
Devika Verma ◽  
Daniyal Matin Ansari ◽  
...  

Abstract Background: Vocal cord palsy is one of the recognised complications of complex cardiac surgery in the paediatric population. While there is an abundance of literature highlighting the presence of this complication, there is a scarcity of research focusing on the pathophysiology, presentation, diagnosis, and treatment options available for children affected by vocal cord palsy. Materials and methods: Electronic searches were conducted using the search terms: “Vocal Cord Palsy,” “VCP,” “Vocal Cord Injury,” “Paediatric Heart Surgery,” “Congenital Heart Surgery,” “Pediatric Heart Surgery,” “Vocal Fold Movement Impairment,” “VFMI,” “Vocal Fold Palsy,” “PDA Ligation.” The inclusion criteria were any articles discussing the outcomes of vocal cord palsy following paediatric cardiac surgery. Results: The two main populations affected by vocal cord palsy are children undergoing aortic arch surgery or those undergoing PDA ligation. There is paucity of prospective follow-up studies; it is therefore difficult to reliably assess the current approaches and the long-term implications of management options. Conclusion: Vocal cord palsy can be a devastating complication following cardiac surgery, which if left untreated, could potentially result in debilitation of quality of life and in severe circumstances could even lead to death. Currently, there is not enough high-quality evidence in the literature to aid recognition, diagnosis, and management leaving clinicians to extrapolate evidence from adult studies to make clinical judgements. Future research with a focus on the paediatric perspective is necessary in providing evidence for good standards of care.


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