A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine

2003 ◽  
Vol 65 (1) ◽  
pp. 70-72 ◽  
Author(s):  
I Alonso ◽  
J Barros ◽  
A Tuna ◽  
A Seixas ◽  
P Coutinho ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Cerebellar Ataxia ◽  
Voltage Sensor ◽  
Hemiplegic Migraine ◽  
Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine: A Clinical Comparison of Families Linked and Unlinked to Chromosome 19

Cephalalgia ◽  
1996 ◽  
Vol 16 (3) ◽  
pp. 153-155 ◽  
Author(s):  
GM Terwindt ◽  
RA Ophoff ◽  
J Haan ◽  
RR Frants ◽  
MD Ferrari ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Features ◽  
Head Trauma ◽  
Clinical Characteristics ◽  
Age At Onset ◽  
Familial Hemiplegic Migraine ◽  
Chromosome 19 ◽  
Hemiplegic Migraine ◽  
Clinical Comparison ◽  
Progressive Cerebellar Ataxia

We compared the clinical characteristics of 50 patients from three unrelated families with familial hemiplegic migraine (FHM) linked to chromosome 19, with those of 20 patients from two families with FHM not linked to chromosome 19. We found no significant differences for age at onset, frequency and duration of attacks, duration of the paresis, and occurrence of basilar migraine symptoms. In the linked families, significantly more patients reported unconsciousness during attacks (39%, vs 15%; p<0.05) and provocation of attacks by mild head trauma (70% vs 40%; p< 0.05). In one linked family patients also displayed chronic progressive cerebellar ataxia, whereas in one unlinked family benign infantile convulsions occurred in addition to FHM. Interestingly, so far an association with cerebellar ataxia was only described in chromosome 19-linked families. FHM linked to chromosome 19 and FHM unlinked to chromosome 19 do not differ with respect to clinical features.

scholarly journals ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

2020 ◽  
Vol 63 (1) ◽  
pp. 111-115 ◽  
Author(s):  
Masayuki Sasaki ◽  
Noriko Sumitomo ◽  
Yuko Shimizu‐Motohashi ◽  
Eri Takeshita ◽  
Kenji Kurosawa ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Progressive Cerebellar Ataxia

scholarly journals Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

2021 ◽  
Vol 22 (15) ◽  
pp. 8247
Author(s):  
Cheng-Tsung Hsiao ◽  
Thomas F. Tropea ◽  
Ssu-Ju Fu ◽  
Tanya M. Bardakjian ◽  
Pedro Gonzalez-Alegre ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Iron Accumulation ◽  
Molecular Spectra ◽  
Loss Of Function ◽  
Brain Iron ◽  
Gain Of Function ◽  
Progressive Cerebellar Ataxia ◽  
Voltage Dependent ◽  
Window Current

Loss-of-function mutations in the KV4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated with iron deposition may also present with cerebellar ataxia. The mechanism underlying brain iron accumulation remains unclear. Here, we aim to ascertain the potential pathogenic role of KCND3 variant in iron accumulation-related cerebellar ataxia. We presented a patient with slowly progressive cerebellar ataxia, parkinsonism, cognitive impairment, and iron accumulation in the basal ganglia and the cerebellum. Whole exome sequencing analyses identified in the patient a heterozygous KCND3 c.1256G>A (p.R419H) variant predicted to be disease-causing by multiple bioinformatic analyses. In vitro biochemical and immunofluorescence examinations revealed that, compared to the human KV4.3 wild-type channel, the p.R419H variant exhibited normal protein abundance and subcellular localization pattern. Electrophysiological investigation, however, demonstrated that the KV4.3 p.R419H variant was associated with a dominant increase in potassium current amplitudes, as well as notable changes in voltage-dependent gating properties leading to enhanced potassium window current. These observations indicate that, in direct contrast with the loss-of-function KCND3 mutations previously reported in cerebellar ataxia patients, we identified a rare gain-of-function KCND3 variant that may expand the clinical and molecular spectra of neurodegenerative cerebellar disorders associated with brain iron accumulation.

L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia

2012 ◽  
Vol 168 (2) ◽  
pp. 187-191 ◽  
Author(s):  
C. Marcel ◽  
M. Mallaret ◽  
O. Lagha-Boukbiza ◽  
S. Kremer ◽  
A. Echaniz-Laguna ◽  
...  
Keyword(s):  
Young Adult ◽  
Cerebellar Ataxia ◽  
Progressive Cerebellar Ataxia ◽  
Facial Dyskinesia

Cryptococcus meningoencephalitis presenting slowly progressive cerebellar ataxia.

1989 ◽  
Vol 78 (5) ◽  
pp. 672-673 ◽  
Author(s):  
Takako OZAWA ◽  
Shinichiro UCHIYAMA ◽  
Itsuro KOBAYASHI ◽  
Toshiko TAKEMIYA ◽  
Shoichi MARUYAMA
Keyword(s):  
Cerebellar Ataxia ◽  
Progressive Cerebellar Ataxia

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

Mitochondrion ◽  
2010 ◽  
Vol 10 (5) ◽  
pp. 510-515 ◽  
Author(s):  
Mike Gerards ◽  
Bianca van den Bosch ◽  
Chantal Calis ◽  
Kees Schoonderwoerd ◽  
Klaartje van Engelen ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Nonsense Mutations ◽  
Progressive Cerebellar Ataxia

scholarly journals Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition

2015 ◽  
Vol 73 (10) ◽  
pp. 823-827 ◽  
Author(s):  
Wladimir Bocca Vieira de Rezende Pinto ◽  
José Luiz Pedroso ◽  
Paulo Victor Sgobbi de Souza ◽  
Marcus Vinícius Cristino de Albuquerque ◽  
Orlando Graziani Povoas Barsottini
Keyword(s):  
Cerebellar Ataxia ◽  
Neurological Diseases ◽  
Acute Onset ◽  
Olivopontocerebellar Atrophy ◽  
Progressive Ataxia ◽  
Progressive Cerebellar Ataxia ◽  
Cerebellar Ataxias ◽  
Triggering Events ◽  
Wide Group

Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation. We evaluated patients with acquired non-progressive cerebellar ataxia that presented previous acute or subacute onset. Clinical and neuroimaging characterization of adult patients with acquired non-progressive ataxia were performed. Five patients were identified with the phenotype of acquired non-progressive ataxia. Most patients presented with a juvenile to adult-onset acute to subacute appendicular and truncal cerebellar ataxia with mild to moderate cerebellar or olivopontocerebellar atrophy. Establishing the etiology of the acute triggering events of such ataxias is complex. Non-progressive ataxia in adults must be distinguished from hereditary ataxias.

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