Clinical spectrum of AIFM1 ‐associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness

2019 ◽  
Vol 24 (4) ◽  
pp. 348-353 ◽  
Author(s):  
Petya Bogdanova‐Mihaylova ◽  
Michael D. Alexander ◽  
Raymond P. Murphy ◽  
Hongying Chen ◽  
Daniel G. Healy ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Spectrum ◽  
Irish Family ◽  
Colour Blindness

scholarly journals Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

2013 ◽  
Vol 71 (6) ◽  
pp. 345-348 ◽  
Author(s):  
Jose Luiz Pedroso ◽  
Pedro Braga-Neto ◽  
Irapua Ferreira Ricarte ◽  
Marcus Vinicius Cristino Albuquerque ◽  
Orlando Graziani Povoas Barsottini
Keyword(s):  
Cerebellar Ataxia ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Friedreich Ataxia ◽  
Cerebellar Atrophy ◽  
Clinical Spectrum ◽  
Progressive Cerebellar Ataxia ◽  
Cerebellar Ataxias ◽  
Autosomal Recessive Cerebellar Ataxias ◽  
Tendon Reflexes

Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.

scholarly journals Spinocerebellar Ataxia 17: A clinical Rubik’s cube

2020 ◽  
Vol 2 (1) ◽  
pp. 1-3
Author(s):  
Dr. Rahul Jain ◽  
Dr. Pankaj Rathi ◽  
Dr. Hashash Singh Ishar ◽  
Dr. Kapil Telang ◽  
Dr. Dinesh Chouksey ◽  
...  
Keyword(s):  
Family History ◽  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Huntington Disease ◽  
Autosomal Dominant ◽  
Clinical Spectrum ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Juvenile Parkinsonism ◽  
Rubik’S Cube ◽  
Indian Male

Spinocerebellar ataxia 17 (SCA 17) has been recognized as one of the most heterogeneous forms of autosomal dominant cerebellar ataxia (ADCA), with a wide clinical spectrum at presentation. SCA17 presenting as Huntington disease like-4 (HDL-4) phenotype has been observed only sporadically or in solitary individuals within a family. We report the case of a young Indian male who presented with juvenile Parkinsonism (HDL like phenotype) features without family history subsequently diagnosed as SCA17.

From dizziness to severe ataxia and dysarthria: New cases of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia suggest a broad clinical spectrum

2017 ◽  
Vol 309 ◽  
pp. 77-81 ◽  
Author(s):  
Ulrike Wallwitz ◽  
Sebastian Brock ◽  
Antje Schunck ◽  
Brigitte Wildemann ◽  
Sven Jarius ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Spectrum ◽  
Severe Ataxia

The Clinical Spectrum of Anaphylaxis in North-West England

1996 ◽  
Vol 26 (12) ◽  
pp. 1364-1370 ◽  
Author(s):  
R. S. H. Pumphrey ◽  
S. J. Stanworth
Keyword(s):  
Clinical Spectrum ◽  
North West

The clinical spectrum of TSH-expressing pituitary adenomas

2013 ◽  
Vol 121 (10) ◽  
Author(s):  
MA Kirkman ◽  
Z Jaunmuktane ◽  
S Brandner ◽  
A Khan ◽  
M Powell ◽  
...  
Keyword(s):  
Pituitary Adenomas ◽  
Clinical Spectrum

Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Enderli ◽  
B. Heinrich ◽  
P. Joset ◽  
J. De Geyter ◽  
J. Scheer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
Autosomal Recessive Cerebellar Ataxia

OCCIPITAL LOBE EPILEPSY IN CHILDREN: THE CLINICAL SPECTRUM AND OUTCOME

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
M Connolly ◽  
R Schukla ◽  
R Gatrill
Keyword(s):  
Occipital Lobe ◽  
Clinical Spectrum ◽  
Occipital Lobe Epilepsy

Clinical spectrum of endocrine toxicities of Immune checkpoint therapy: single centre experience

2019 ◽  
Author(s):  
Mamta Joshi ◽  
Leo Duffy ◽  
Anand Velusamy ◽  
Sophie Papa ◽  
Paul Carroll
Keyword(s):  
Immune Checkpoint ◽  
Clinical Spectrum ◽  
Single Centre ◽  
Single Centre Experience
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