scholarly journals A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

2019 ◽  
Vol 8 (6) ◽  
pp. 789 ◽  
Author(s):  
Charlotte M. Zierz ◽  
Karen Baty ◽  
Emma L. Blakely ◽  
Sila Hopton ◽  
Gavin Falkous ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Cerebellar Ataxia ◽  
Dna Analysis ◽  
Late Onset ◽  
Axonal Neuropathy ◽  
Low Frequency ◽  
Complex Iv ◽  
Progressive Cerebellar Ataxia ◽  
Electrophysiological Studies ◽  
History Of

Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progressive cerebellar ataxia, tremor and axonal neuropathy. No family history of neurological disorder was reported. Although her muscle biopsy demonstrated a significant COX deficiency, there was no clinical and electromyographical evidence of myopathy. Electrophysiological studies identified low frequency sinusoidal postural tremor at 3 Hz, corroborating the clinical finding of cerebellar dysfunction. Complete sequencing of the mitochondrial DNA genome in muscle identified a novel MT-CO2 variant, m.8163A>G predicting p.(Tyr193Cys). We present several lines of evidence, in proving the pathogenicity of this heteroplasmic mitochondrial DNA variant, as the cause of her clinical presentation. Our findings serve as an important reminder that full mitochondrial DNA analysis should be included in the diagnostic pipeline for investigating individuals with spinocerebellar ataxia.

scholarly journals Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS)

2020 ◽  
Author(s):  
Mathieu Dupré ◽  
Ruben Hermann ◽  
Caroline Froment Tilikete
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset ◽  
Genetic Disorder ◽  
Axonal Neuropathy ◽  
Sensory Neuropathy ◽  
Bilateral Vestibulopathy ◽  
Familial Form ◽  
Vestibulo Ocular Reflex ◽  
Classical Triad ◽  
Factor C

Abstract The syndrome of cerebellar ataxia with neuropathy and bilateral vestibular areflexia (CANVAS) has emerged progressively during the last 30 years. It was first outlined by the neurootology/neurophysiology community in the vestibular areflexic patients, through the description of patients slowly developing late-onset cerebellar ataxia and bilateral vestibulopathy. The characteristic deficit of visuo-vestibulo-ocular reflex (VVOR) due to the impaired slow stabilizing eye movements was put forward and a specific disease subtending this syndrome was suggested. The association to a peripheral sensory axonal neuropathy was described later on, with neuropathological studies demonstrating that both sensory neuropathy and vestibular areflexia were diffuse ganglionopathy. Clinical and electrophysiological criteria of CANVAS were then proposed in 2016. Besides the classical triad, frequent chronic cough, signs of dysautonomia and neurogenic pains were frequently observed. From the beginning of published cohorts, sporadic as well as familial cases were reported, the last suggestive of an autosomal recessive mode of transmission. The genetic disorder was discovered in 2019, under the form of abnormal biallelic expansion in the replication factor C subunit 1 (RFC1) in a population of late-onset ataxia. This pathological expansion was found in 100% of the familial form and 92% of sporadic ones when the triad was complete. But using the genetic criteria, the phenotype of CANVAS seems to expand, for exemple including patients with isolated neuronopathy. We propose here to review the clinical, electrophysiological, anatomical, genetic aspect of CANVAS in light of the recent discovery of the genetic aetiology, and discuss differential diagnosis, neuropathology and physiopathology.

Carpal Tunnel Syndrome in Amyotrophic Lateral Sclerosis and Late Onset Cerebellar Ataxia

1996 ◽  
Vol 21 (4) ◽  
pp. 553-558 ◽  
Author(s):  
M. MONDELLI ◽  
P. DELLA PORTA ◽  
A. ZALAFFI ◽  
A. ROSSI
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Carpal Tunnel Syndrome ◽  
Cerebellar Ataxia ◽  
Carpal Tunnel ◽  
Late Onset ◽  
Axonal Neuropathy ◽  
Electrophysiological Findings ◽  
Tunnel Syndrome ◽  
Lateral Sclerosis

We report on clinical and electrophysiological findings and management in nine patients who developed carpal tunnel syndrome during the course of amyotrophic lateral sclerosis and late onset cerebellar ataxia, two neurodegenerative diseases. The patients were treated with surgical decompression (five cases) and local steroid injections (four cases). Only one showed lasting relief of symptoms and significantly improved distal conduction in the median nerve at follow-up after 2 to 3 months. The symptoms and conduction data remained unchanged in three patients who could be followed for more than 1 year. We think that axonal neuropathy plays an important role in the development of carpal tunnel syndrome in these patients and accounts for the failure of the standard treatments.

Tracing the genetic history of the Chinese people: Mitochondrial DNA analysis of aneolithic population from the Lajia site

2007 ◽  
Vol 133 (4) ◽  
pp. 1128-1136 ◽  
Author(s):  
Shi-Zhu Gao ◽  
Yi-Dai Yang ◽  
Yue Xu ◽  
Quan-Chao Zhang ◽  
Hong Zhu ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Dna Analysis ◽  
Chinese People ◽  
Genetic History ◽  
Lajia Site ◽  
Mitochondrial Dna Analysis ◽  
History Of

scholarly journals Late onset of atypical paroxysmal non-kinesigenic dyskinesia with remote history of Graves’ disease

2013 ◽  
Vol 04 (04) ◽  
pp. 449-450 ◽  
Author(s):  
Abdul Qayyum Rana ◽  
Ambreen Nadeem ◽  
Muhammad Saad Yousuf ◽  
Zakerabibi M. Kachhvi
Keyword(s):  
Late Onset ◽  
Low Frequency ◽  
Graves Disease ◽  
Pharmacological Interventions ◽  
Younger Age ◽  
Dystonic Posturing ◽  
History Of ◽  
Hyperkinetic Movement Disorder ◽  
Poor Outcomes ◽  
Stress Fatigue

ABSTRACTParoxysmal non-kinesigenic dyskinesia (PNKD) is a rare hyperkinetic movement disorder and falls under the category of paroxysmal movement disorders. In this condition, episodes are spontaneous, involuntary, and involve dystonic posturing with choreic and ballistic movements. Attacks last for minutes to hours and rarely occur more than once per day. Attacks are not typically triggered by sudden movement, but may be brought on by alcohol, caffeine, stress, fatigue, or chocolate. We report a patient with multiple atypical features of PNKD. She had a 7-year history of this condition with onset at the age of 59, and a remote history of Graves’ disease requiring total thyroidectomy. The frequency of attacks in our case ranged from five to six times a day to a minimum of twice per week, and the duration of episode was short, lasting not more than 2 min. Typically, PNKDs occur at a much younger age and have longer attack durations with low frequency. Administering clonazepam worked to reduce her symptoms, although majority of previous research suggests that pharmacological interventions have poor outcomes.

scholarly journals Leprosy late-onset neuropathy: an uncommon presentation of leprosy

2012 ◽  
Vol 70 (6) ◽  
pp. 404-406 ◽  
Author(s):  
Osvaldo J.M. Nascimento ◽  
Marcos R. G. de Freitas ◽  
Tania Escada ◽  
Wilson Marques Junior ◽  
Fernando Cardoso ◽  
...  
Keyword(s):  
Late Onset ◽  
Past History ◽  
Axonal Neuropathy ◽  
Nerve Biopsy ◽  
Time Interval ◽  
Painful Neuropathy ◽  
Uncommon Presentation ◽  
Electrophysiological Studies ◽  
Previously Treated Patients ◽  
The Mean

Clinical and pathological findings in leprosy are determined by the natural host immune response to Mycobacterium leprae. We previously described cases of painful neuropathy (PN) with no concurrent cause apart from a past history of leprosy successfully treated. Four leprosy previously treated patients who developed a PN years after multidrug therapy (MDT) are reported. The mean patient age was 52.75 years (47-64). The mean time interval of the recent neuropathy from the previous MDT was 19 years (12-26). A painful multiplex neuritis or polyneuropathy were observed respectively in two cases. Electrophysiological studies disclosed a sensory axonal neuropathy in two cases. Microvasculitis with no bacilli was seen in nerve biopsy. Neuropathic symptoms were improved with prednisone. We consider these cases as being a leprosy late-onset neuropathy (LLON) form of presentation. A delayed immune reaction could explain the late appearance of LLON.

scholarly journals Genetic Admixture History of Eastern Indonesia as Revealed by Y-Chromosome and Mitochondrial DNA Analysis

2009 ◽  
Vol 26 (8) ◽  
pp. 1865-1877 ◽  
Author(s):  
S. Mona ◽  
K. E. Grunz ◽  
S. Brauer ◽  
B. Pakendorf ◽  
L. Castri ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Y Chromosome ◽  
Dna Analysis ◽  
Genetic Admixture ◽  
Eastern Indonesia ◽  
Mitochondrial Dna Analysis ◽  
History Of

scholarly journals Cerebellar Ataxia, An Unusual Neurological Manifestation of Coeliac Disease- A Case Study

2016 ◽  
Vol 32 (1) ◽  
pp. 43-46
Author(s):  
- Md Raknuzzaman ◽  
Abdul Kader Sheikh ◽  
Hasan Zhahidur Rahman ◽  
SK Mahbub Alam ◽  
Saifullah Ahthesam ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Coeliac Disease ◽  
Cerebellar Ataxia ◽  
Late Onset ◽  
Villous Atrophy ◽  
Tissue Transglutaminase ◽  
Normal Population ◽  
Autoimmune Disorder ◽  
Progressive Cerebellar Ataxia ◽  
Gluten Sensitive Enteropathy

Coeliac disease was considered as a gluten sensitive enteropathy but now due to its wide clinical presentation is considered as multisystem autoimmune disorder. Ataxia with peripheral neuropathy is a rare manifestation of gluten sensitivity. The presence of glutenrelated immune markers in normal population however complicates the reliable diagnosis of gluten related neurological disorders and clinical improvement on gluten free diet can serve as a diagnostic tool for this disease. We report a case of sporadic progressive cerebellar ataxia with peripheral neuropathy with positive anti tissue transglutaminase (antitTG) antibodies and subtotal villous atrophy in duodenal biopsy. This case highlights an important diagnostic and therapeutic principle in management of late onset idiopathic ataxia. Bangladesh Journal of Neuroscience 2016; Vol. 32 (1): 43-46

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