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

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

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.

Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy

2019 ◽  
Vol 40 (4) ◽  
pp. 376-379 ◽  
Author(s):  
Veena Vedartham ◽  
Soumya Sundaram ◽  
Sruthi S Nair ◽  
Aparna Ganapathy ◽  
Ashraf Mannan ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Childhood Onset ◽  
Sequestosome 1 ◽  
Progressive Cerebellar Ataxia ◽  
Vertical Gaze ◽  
Gaze Palsy

Progressive cerebellar ataxia in juvenile GM 2 -gangliosidosis type Sandhoff

1998 ◽  
Vol 157 (10) ◽  
pp. 866-867 ◽  
Author(s):  
M. Beck ◽  
N. Sieber ◽  
H. H. Goebel
Keyword(s):  
Cerebellar Ataxia ◽  
Progressive Cerebellar Ataxia
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