scholarly journals Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.

1990 ◽  
Vol 53 (8) ◽  
pp. 667-670 ◽  
Author(s):  
A Filla ◽  
G De Michele ◽  
F Cavalcanti ◽  
A Perretti ◽  
L Santoro ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Heterogeneity ◽  
Early Onset ◽  
Tendon Reflexes

EARLY ONSET CEREBELLAR ATAXIA WITH RETAINED TENDON REFLEXES

Brain ◽  
1991 ◽  
Vol 114 (4) ◽  
pp. 1559-1573 ◽  
Author(s):  
T. KLOCKGETHER ◽  
D. PETERSEN ◽  
W. GRODD ◽  
J. DICHGANS
Keyword(s):  
Cerebellar Ataxia ◽  
Early Onset ◽  
Tendon Reflexes

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.

Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile?

1992 ◽  
Vol 113 (1) ◽  
pp. 43-49 ◽  
Author(s):  
L. Santoro ◽  
A. Perretti ◽  
A. Filla ◽  
G. De Michele ◽  
B. Lanzillo ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Early Onset ◽  
Tendon Reflexes

Early-onset cerebellar ataxia with retained tendon reflexes

1989 ◽  
Vol 80 (6) ◽  
pp. 593-597 ◽  
Author(s):  
A. Özeren ◽  
N. Araç ◽  
A. Ülkü
Keyword(s):  
Cerebellar Ataxia ◽  
Early Onset ◽  
Tendon Reflexes

Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member

1999 ◽  
Vol 101 (4) ◽  
pp. 253-255 ◽  
Author(s):  
H.J Schelhaas ◽  
M.v.d Hulst ◽  
E Ippel ◽  
R.L Prevo ◽  
G Hageman
Keyword(s):  
Family Member ◽  
Cerebellar Ataxia ◽  
Early Onset ◽  
First Grade ◽  
Foot Deformity ◽  
Tendon Reflexes
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