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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1982 2
1984 2
1985 2
1987 2
1988 1
1989 1
1990 2
1991 1
1992 1
1993 2
1995 3
1996 3
1997 3
1998 7
1999 4
2000 2
2001 4
2002 4
2004 2
2005 4
2006 2
2007 2
2008 4
2009 4
2010 2
2011 2
2013 5
2014 5
2015 2
2016 1
2017 2
2018 3
2019 1
2020 4
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2023 1
2024 0

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89 results

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Page 1
Spastic ataxias.
Bereznyakova O, Dupré N. Bereznyakova O, et al. Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. Handb Clin Neurol. 2018. PMID: 29891058 Review.
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E defici …
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia …
Recessive ataxias.
Synofzik M, Németh AH. Synofzik M, et al. Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. Handb Clin Neurol. 2018. PMID: 29891078 Review.
To guide clinical workup and management in SCARs, we provide an up-to-date overview of the most frequent SCARs and their phenotypic features. These include Friedreich ataxia, spastic paraplegia type 7-related ataxia, autosomal-recessive spastic ataxia …
To guide clinical workup and management in SCARs, we provide an up-to-date overview of the most frequent SCARs and their phenotypic features …
Current and Promising Therapies in Autosomal Recessive Ataxias.
Picher-Martel V, Dupre N. Picher-Martel V, et al. CNS Neurol Disord Drug Targets. 2018;17(3):161-171. doi: 10.2174/1871527317666180419115029. CNS Neurol Disord Drug Targets. 2018. PMID: 29676235 Review.
The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of the Friedreich's ataxia, the most common autosomal recessive ataxia, and …
The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many year …
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Baumgartner MR. Baumgartner MR. Handb Clin Neurol. 2013;113:1799-810. doi: 10.1016/B978-0-444-59565-2.00049-6. Handb Clin Neurol. 2013. PMID: 23622402 Review.
Individuals affected with inherited vitamin E deficiencies including ataxia with isolated vitamin E deficiency and abetalipoproteinemia present with a spinocerebellar syndrome similar to patients with Friedreich's ataxia. ...
Individuals affected with inherited vitamin E deficiencies including ataxia with isolated vitamin E deficiency and abetalipoproteinem …
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia.
Bonello M, Ray P. Bonello M, et al. Case Rep Neurol Med. 2016;2016:8342653. doi: 10.1155/2016/8342653. Epub 2016 Feb 16. Case Rep Neurol Med. 2016. PMID: 26989534 Free PMC article.
It is almost indistinguishable clinically from Friedreich's ataxia but with appropriate treatment its devastating neurological features can be prevented. ...In this case report we present a patient who was initially diagnosed with Friedreich's …
It is almost indistinguishable clinically from Friedreich's ataxia but with appropriate treatment its devastating neuro …
Ataxia with vitamin e deficiency in norway.
Elkamil A, Johansen KK, Aasly J. Elkamil A, et al. J Mov Disord. 2015 Jan;8(1):33-6. doi: 10.14802/jmd.14030. Epub 2015 Jan 13. J Mov Disord. 2015. PMID: 25614784 Free PMC article.
OBJECTIVE: Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity a …
OBJECTIVE: Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childh …
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia with retained t …
This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (est …
Ataxia due to vitamin E deficiency: A case report and updated review.
Thapa S, Shah S, Chand S, Sah SK, Gyawali P, Paudel S, Khanal P. Thapa S, et al. Clin Case Rep. 2022 Sep 6;10(9):e6303. doi: 10.1002/ccr3.6303. eCollection 2022 Sep. Clin Case Rep. 2022. PMID: 36093469 Free PMC article.
Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. ...The disease is characterized clinically by symptoms with often resembling to those of Friedreich ataxia (FRDA). Vitamin E s …
Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. …
Clinical and genetic study of ataxia with vitamin E deficiency: A case report.
Zhang LW, Liu B, Peng DT. Zhang LW, et al. World J Clin Cases. 2022 Aug 16;10(23):8271-8276. doi: 10.12998/wjcc.v10.i23.8271. World J Clin Cases. 2022. PMID: 36159513 Free PMC article.
BACKGROUND: Ataxia with vitamin E deficiency (AVED) is a type of autosomal recessive cerebellar ataxia. Clinical manifestations include progressive cerebellar ataxia and movement disorders. TTPA gene mutations cause the disease. ...
BACKGROUND: Ataxia with vitamin E deficiency (AVED) is a type of autosomal recessive cerebellar ataxia. Clinical manife …
89 results