Vestibulo-ocular function in patients with sporadic ataxia

Abstract Introduction Spinocerebellar ataxia (SCA) is part of a genetic and clinical heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia. Objective To describe the results of audiological and electrophysiological hearing evaluations in patients with sporadic ataxia (SA). Methods A retrospective cross-sectional study was carried out with 11 patients submitted to the following procedures: anamnesis, otorhinolaryngological evaluation, tonal and vocal audiometry, acoustic immittance and brainstem auditory evoked potential (BAEP) tests. Results The patients presented with a prevalence of gait imbalance, of dysarthria, and of dysphagia; in the audiometric and BAEPs, four patients presented with alterations; in the acoustic immittance test, five patients presented with alterations, predominantly bilateral. Conclusion The most evident alterations in the audiological evaluation were the prevalence of the descending audiometric configuration between the frequencies of 2 and 4 kHz and the absence of the acoustic reflex between the frequencies of 3 and 4 kHz bilaterally. In the electrophysiological evaluation, the patients presented changes with a prevalence of increased I, III and V wave latencies and the interval in the interpeak I-III, I-V and III-V. In the present study, it was observed that auditory complaints did not have a significant prevalence in this type of ataxia, which does not occur in some types of autosomal recessive and dominant ataxia.

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Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy

Brain Research Bulletin ◽

10.1016/s0361-9230(01)00650-5 ◽

2001 ◽

Vol 56 (3-4) ◽

pp. 363-366 ◽

Cited By ~ 5

Author(s):

E. Cellini ◽

P. Forleo ◽

B. Nacmias ◽

A. Tedde ◽

S. Latorraca ◽

...

Keyword(s):

Genetic Analysis ◽

Central Italy ◽

Sporadic Ataxia

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Spectral analysis of heart rate variability in multiple system atrophy and unexplained sporadic ataxia

Journal of Neurology ◽

10.1007/s00415-004-0460-x ◽

2004 ◽

Vol 251 (7) ◽

Cited By ~ 3

Author(s):

Michael Abele ◽

Thomas Klockgether ◽

Ullrich W�llner

Keyword(s):

Heart Rate ◽

Heart Rate Variability ◽

Spectral Analysis ◽

Multiple System Atrophy ◽

Sporadic Ataxia

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PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema

The Cerebellum ◽

10.1007/s12311-016-0784-y ◽

2016 ◽

Vol 16 (1) ◽

pp. 272-275 ◽

Cited By ~ 10

Author(s):

C. Tzoulis ◽

Paweł Sztromwasser ◽

Stefan Johansson ◽

Ivar Otto Gjerde ◽

Per Knappskog ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Whole Exome ◽

Sporadic Ataxia ◽

Norwegian Patient

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C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China

Journal of the Neurological Sciences ◽

10.1016/j.jns.2015.12.034 ◽

2016 ◽

Vol 361 ◽

pp. 181-183 ◽

Cited By ~ 1

Author(s):

Miao He ◽

Wei-Qian Yan ◽

Sheng Zeng ◽

Zhen Liu ◽

Yao Zhou ◽

...

Keyword(s):

Mainland China ◽

Repeat Expansion ◽

C9orf72 Repeat Expansion ◽

Sporadic Ataxia

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Molecular epidemiology of hereditary ataxia in Finland

BMC Neurology ◽

10.1186/s12883-021-02409-z ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Joonas Lipponen ◽

Seppo Helisalmi ◽

Joose Raivo ◽

Ari Siitonen ◽

Hiroshi Doi ◽

...

Keyword(s):

Molecular Epidemiology ◽

Cerebellar Ataxia ◽

Point Mutations ◽

Repeat Expansion ◽

Unknown Etiology ◽

Routine Diagnostics ◽

Charcot Marie Tooth ◽

Single Deletion ◽

Repeat Expansions ◽

Sporadic Ataxia

Abstract Background The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations. The aim of the study was to investigate the molecular epidemiology of ataxia in the Finnish population. Patients and methods All patients in hospital database were reviewed for the diagnosis of unspecified ataxia. Acquired ataxias and nongenetic ataxias such as those related to infection, trauma or stroke were excluded. Sixty patients with sporadic ataxia with unknown etiology and 36 patients with familial ataxia of unknown etiology were recruited in the study. Repeat expansions in the SCA genes (ATXN1, 2, 3, 7, 8/OS, CACNA1A, TBP), FXN, and RFC1 were determined. Point mutations in POLG, SPG7 and in mitochondrial DNA (mtDNA) were investigated. In addition, DNA from 8 patients was exome sequenced. Results A genetic cause of ataxia was found in 33 patients (34.4%). Seven patients had a dominantly inherited repeat expansion in ATXN8/OS. Ten patients had mitochondrial ataxia resulting from mutations in nuclear mitochondrial genes POLG or RARS2, or from a point mutation m.8561C > G or a single deletion in mtDNA. Interestingly, five patients were biallelic for the recently identified pathogenic repeat expansion in RFC1. All the five patients presented with the phenotype of cerebellar ataxia, neuropathy, and vestibular areflexia (CANVAS). Moreover, screening of 54 patients with Charcot-Marie-Tooth neuropathy revealed four additional patients with biallelic repeat expansion in RFC1, but none of them had cerebellar symptoms. Conclusions Expansion in ATXN8/OS results in the majority of dominant ataxias in Finland, while mutations in RFC1 and POLG are the most common cause of recessive ataxias. Our results suggest that analysis of RFC1 should be included in the routine diagnostics of idiopathic ataxia and Charcot-Marie-Tooth polyneuropathy.

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Ataxia and the Role of Antigliadin Antibodies

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s031716710000603x ◽

2007 ◽

Vol 34 (2) ◽

pp. 193-196 ◽

Cited By ~ 9

Author(s):

D. Wong ◽

M. Dwinnel ◽

M. Schulzer ◽

M. Nimmo ◽

B. R. Leavitt ◽

...

Keyword(s):

Celiac Disease ◽

Subgroup Analysis ◽

Neurological Complications ◽

Negative Results ◽

Antigliadin Antibodies ◽

Subgroup Analyses ◽

Sporadic Ataxia

Background:Although it is acknowledged that patients with celiac disease can develop neurological complications such as ataxia, the association of antigliadin antibodies in the etiology of sporadic ataxia and the usefulness of this testing in diagnosis of ataxia is controversial.Methods:We investigated this association by testing for the presence of IgG and IgA antigliadin antibodies in 56 ataxic patients and 59 controls. The ataxia patients were subsequently classified into three groups: sporadic, hereditary and MSA.Results:Of the total ataxic patients, 6/56 (11%) were positive for either IgG or IGA antigliadin antibodies compared to the controls of which 5/59 (8%) were positive (p = 0.68). In a subgroup analysis, 4/29 (14%) of the samples in the sporadic ataxic subgroup were positive for antigliadin antibodies (IgG or IgA) compared to control (p = 0.44). Similar negative results were found in the remaining subgroup analyses.Conclusions:These results do not support an association between antigliadin antibodies and sporadic ataxias.

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Effect of gluten-free diet on cerebellar MR spectroscopy in gluten ataxia

Neurology ◽

10.1212/wnl.0000000000004237 ◽

2017 ◽

Vol 89 (7) ◽

pp. 705-709 ◽

Cited By ~ 22

Author(s):

Marios Hadjivassiliou ◽

Richard A. Grünewald ◽

David S. Sanders ◽

Priya Shanmugarajah ◽

Nigel Hoggard

Keyword(s):

Clinical Care ◽

Area Ratio ◽

Gluten Free Diet ◽

Resonance Spectroscopy ◽

Gluten Free ◽

Positive Serology ◽

Gluten Ataxia ◽

Antigliadin Antibodies ◽

Sporadic Ataxia ◽

Repeat Scanning

Objective:To evaluate the effect of gluten free diet (GFD) on magnetic resonance spectroscopy (MRS) of the cerebellum in patients with gluten ataxia (GA).Methods:Patients with GA, defined as sporadic ataxia with positive antigliadin antibodies in the absence of an alternative cause, routinely undergo MRS at baseline and after the introduction of GFD as part of their clinical care. We present our experience of the effect of GFD on MRS of the cerebellum.Results:A total of 117 consecutive patients with GA were included in this report. Sixty-three were on strict GFD with elimination of antigliadin antibodies, 35 were on GFD but were still positive for antigliadin antibodies, and 19 patients opted not to go on GFD. The N-acetylaspartate (NAA)/creatine (Cr) area ratio from the cerebellar vermis increased in 62 out of 63 (98%) patients on strict GFD, in 9 of 35 (26%) patients on GFD but positive antibodies, and in only 1 of 19 (5%) patients not on GFD. The NAA/Cr ratio decreased in all 14 ataxia control patients (cerebellar variant of multisystem atrophy). There were no differences in the MRS results between those patients who had and those who did not have enteropathy (celiac disease) within each group.Conclusions:The demonstration of increased NAA/Cr ratio on repeat scanning following strict GFD strengthens previous findings of clinical improvement of the ataxia in patients with GA. The presence of enteropathy is not a prerequisite for such improvement; therefore patients with positive serology and negative duodenal biopsy should still be treated with strict GFD.

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