Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia

2004 ◽  
Vol 366 (2) ◽  
pp. 120-125 ◽  
Author(s):  
Makito Hirano ◽  
Tomohisa Nishiwaki ◽  
Shingo Kariya ◽  
Yoshiko Furiya ◽  
Makoto Kawahara ◽  
...  
Keyword(s):  
Early Onset ◽  
Molecular Diversity ◽  
Splice Variants ◽  
Ocular Motor ◽  
Early Onset Ataxia ◽  
Motor Apraxia

Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia

2021 ◽  
pp. 108776
Author(s):  
Tamaki Kato ◽  
Yoshiteru Tamura ◽  
Hiroshi Matsumoto ◽  
Osamu Kobayashi ◽  
Hideaki Ishiguro ◽  
...  
Keyword(s):  
Early Onset ◽  
Ocular Motor ◽  
Early Onset Ataxia ◽  
Motor Apraxia ◽  
Immunological Abnormalities

scholarly journals Genotype–phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia

Brain ◽  
2011 ◽  
Vol 134 (5) ◽  
pp. 1387-1399 ◽  
Author(s):  
Akio Yokoseki ◽  
Tomohiko Ishihara ◽  
Akihide Koyama ◽  
Atsushi Shiga ◽  
Mitsunori Yamada ◽  
...  
Keyword(s):  
Early Onset ◽  
Ocular Motor ◽  
Early Onset Ataxia ◽  
Motor Apraxia

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations

Neurology ◽  
2002 ◽  
Vol 59 (4) ◽  
pp. 590-595 ◽  
Author(s):  
H. Shimazaki ◽  
Y. Takiyama ◽  
K. Sakoe ◽  
K. Ikeguchi ◽  
K. Niijima ◽  
...  
Keyword(s):  
Early Onset ◽  
Gene Mutations ◽  
Ocular Motor ◽  
Early Onset Ataxia ◽  
Motor Apraxia

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

2001 ◽  
Vol 29 (2) ◽  
pp. 184-188 ◽  
Author(s):  
Hidetoshi Date ◽  
Osamu Onodera ◽  
Hajime Tanaka ◽  
Kiyoshi Iwabuchi ◽  
Kazutoshi Uekawa ◽  
...  
Keyword(s):  
Early Onset ◽  
Ocular Motor ◽  
Early Onset Ataxia ◽  
Motor Apraxia

Purkinje Cell Loss in the Cerebellar Flocculus in Patients with Ataxia with Ocular Motor Apraxia Type 1/Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia

2007 ◽  
Vol 59 (1-2) ◽  
pp. 18-23 ◽  
Author(s):  
Masashiro Sugawara ◽  
Chizu Wada ◽  
Satoshi Okawa ◽  
Michio Kobayashi ◽  
Masato Sageshima ◽  
...  
Keyword(s):  
Purkinje Cell ◽  
Early Onset ◽  
Cell Loss ◽  
Ocular Motor ◽  
Early Onset Ataxia ◽  
Purkinje Cell Loss ◽  
Cerebellar Flocculus ◽  
Motor Apraxia

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

scholarly journals The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Maria A. Gandini ◽  
Ivana A. Souza ◽  
Laurent Ferron ◽  
A. Micheil Innes ◽  
Gerald W. Zamponi
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Structural Damage ◽  
De Novo ◽  
Splice Variants ◽  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Significant Loss ◽  
Loss Of Function ◽  
Hemiplegic Migraine

AbstractCACNA1A pathogenic variants have been linked to several neurological disorders including familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have been associated with severe early onset developmental encephalopathies. CACNA1A is highly expressed in the central nervous system and encodes the pore-forming CaVα1 subunit of P/Q-type (Cav2.1) calcium channels. We have previously identified a patient with a de novo missense mutation in CACNA1A (p.Y1384C), characterized by hemiplegic migraine, cerebellar atrophy and developmental delay. The mutation is located at the transmembrane S5 segment of the third domain. Functional analysis in two predominant splice variants of the neuronal Cav2.1 channel showed a significant loss of function in current density and changes in gating properties. Moreover, Y1384 variants exhibit differential splice variant-specific effects on recovery from inactivation. Finally, structural analysis revealed structural damage caused by the tyrosine substitution and changes in electrostatic potentials.

Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients

1993 ◽  
Vol 152 (7) ◽  
pp. 609-612 ◽  
Author(s):  
V. Leuzzi ◽  
R. Elli ◽  
A. Antonelli ◽  
L. Chessa ◽  
F. Cardona ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Early Onset ◽  
Cytogenetic Study ◽  
Early Onset Ataxia
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