Symptom: Ataxia

[jimmylegs]

Ataxia describes a lack of muscle control or coordination of voluntary movements, such as walking or picking up objects. A sign of an underlying condition, ataxia can affect various movements, creating difficulties with speech, eye movement and swallowing. Many conditions can cause ataxia, including alcohol abuse, certain medications, stroke, tumor, cerebral palsy, brain degeneration and multiple sclerosis. Inherited defective genes also can cause the condition.
https://www.mayoclinic.org/diseases-con ... c-20355652

Sensory ataxias Sensory ataxia leads to a lack of muscle movement coordination caused by a loss of the sense of where different parts of the body are located in relation to each other and the ground. Caused by damage to the nerves that send constant feedback from the position sensors in the joints and muscles to the movement control centre in the brain, sensory ataxia leads to unsteady walking and, in particular, may affect the ability to balance in the dark or with closed eyes (in situations such as showering). http://bit.ly/2zRV9bR

Persistent functional deficit in multiple sclerosis and autosomal dominant cerebellar ataxia is associated with axon loss
https://academic.oup.com/brain/article- ... 583/319457
Abstract
Summary
Proton magnetic resonance spectroscopy (MRS) and MRI were carried out in 11 patients with multiple sclerosis who had clinical evidence of severe cerebellar involvement, 11 multiple sclerosis patients (of similar age and disease duration) who had minimal or no signs of cerebellar disease. eight patients with autosomal dominant cerebellar ataxia (ADCA) and 11 healthy controls. In all subjects MRS was localized to cerebellar white matter (volumes of interest 3–6 ml). Apparent metabolite concentrations were calculated using the fully relaxed water spectrum as an internal standard of reference. The patients also underwent MRI to assess cerebellar volume and (in the two multiple sclerosis groups) lesion volume within the posterior fossa. Magnetic resonance spectroscopy from cerebellar white matter showed a highly significant reduction in the concentration of N-acetyl groups (NA) [which consists predominantly of N-acetylaspartate (NAA), a neuronal marker] in the multiple sclerosis group with cerebellar deficit compared with the multiple sclerosis group with minimal or no signs of cerebellar involvement, and healthy controls. Follow-up MRS performed in six of the multiple sclerosis patients 9 months later showed no change in the median NA concentration. The ADCA group showed a significant reduction of NA from a region of cerebellar white matter and also a reduction in the concentration of choline-containing compounds. The multiple sclerosis group with severe cerebellar deficit and the ADCA group both had significant cerebellar atrophy (suggesting nerve cell body and axon loss) compared with the multiple sclerosis patients with minimal or no signs of cerebellar deficit and healthy controls. The multiple sclerosis patients with cerebellar deficit had a significantly greater lesion volume in the posterior fossa, although the proportion of the spectroscopic voxel occupied by lesions was small, suggesting that axonal loss from normal appearing white matter also contributes to the observed reduction in NA. These results support the hypothesis that axonal loss is important in the development of persistent clinical disability in multiple sclerosis

[jimmylegs]

Hypomagnesemia: a Treatable Cause of Ataxia with Cerebellar Edema [aka PPIs (eg omeprazole) strike again]
https://link.springer.com/article/10.10 ... 017-0873-6

Introduction
There are a wide variety of causes of cerebellar ataxia including toxics, vitamin deficiencies, infections, autoimmune diseases, neoplasms, and genetic disorders [1]. To date, cases of cerebellar ataxia due to hypomagnesemia have rarely been reported [2, 3, 4]. The main clinical manifestations of hypomagnesemia are neurological and cardiovascular. Neurological symptoms include tremors, fasciculation, tetany, convulsions, nystagmus, and neuropsychiatric disturbances [5]. We describe a case of subacute ataxia with cerebellar edema due to critically low levels of serum magnesium. Magnesium replacement led to the resolution of the clinical picture although slight cerebellar neuronal loss persisted.

Case Report
A 43-year-old man was admitted due to several weeks of fluctuating dysarthria, ataxia, nausea, and headache. The week prior to admission, his condition deteriorated with episodes of worsening ataxia and dysarthria, as well as weakness, tremors, and progressive mental disorder. He smoked ten cigarettes per day and had a personal history of type 2 diabetes mellitus (DM2) controlled with a single oral hypoglycemic agent. Other medications before admission included omeprazole, mirtazapine, and lorazepam. He had no other comorbidities or personal history of alcohol consumption.

At admission, his systemic examination was normal including blood pressure and electrocardiography monitoring. Neurological examination disclosed confusion, delirium, dysarthria, hyperreflexia, and cerebellar ataxia. Laboratory tests revealed hypocalcemia (7.4 mg/dL, normal range 8.1 to 10.4 mg/dL), severe hypomagnesemia (< 0.70 mg/dL, normal range 1.7 to 2.5 mg/dL), and rhabdomyolysis (creatine kinase 1971 U/L, normal range 20 to 190 U/L). Other laboratory values and a brain computed tomography (CT) were unremarkable...
...
Treatment with omeprazole was discontinued, and intravenous magnesium (296 mg of elemental magnesium) and calcium (180 mg of elemental calcium) were administered initially followed by an infusion of intravenous magnesium (444 mg of elemental magnesium administered slowly over 24 h). Laboratory tests conducted after 48 h showed normal serum magnesium and calcium levels... Oral magnesium supplementation (53 mg of elemental magnesium) was continued daily, and after 5 days, there was an increase in the 24-h urinary magnesium excretion (26.4 mg/24 h, range 6 to 21 mg/24 h); however, due to magnesium supplementation, this data was not taken into account. Symptoms improved after magnesium replacement although there persisted slight fluctuating dysarthria, hyperreflexia and ataxia. ...

Despite normal levels of serum magnesium taking oral supplementation, slight residual ataxia and bradypsychia persisted for 2 weeks after admission. A repeat MRI showed persistent hyperintensity of the cerebellar hemispheres, and magnetic resonance spectroscopy (MRE) revealed findings consistent with neuronal loss in the regions with abnormal signal (Fig.1d–g).
...
Conclusions
The identification of patients with hypomagnesemia requires high clinical suspicion as serum magnesium is not routinely measured in blood tests. Cerebellar ataxia may be the principal manifestation in cases with magnesium deficiency, and its early detection and treatment is essential to avoid permanent cerebellar impairment. Additionally, it is important to analyze serum magnesium in cases with a suspicion of RPLS, mainly in those patients with cerebellum involvement. Finally, magnesium supplementation might be a potential treatment to be tested in patients with AE2.

re residual symptoms, article's full text delivers no clarity re the nature of the 'normal' serum value achieved post treatment. 1.71 mg/dl? 2.4 mg/dl? huge difference.

[jimmylegs]

Vitamin E Deficiency Syndrome
http://neuromuscular.wustl.edu/nother/vitamin.htm#e
Clinical
>Polyneuropathy
>>Sensory loss
>>Large fiber modalities
>>Sensory ataxia

Diagnosis
>Vitamin E levels: Undetectable or very low levels in serum
>Other: Fat malabsorption → Fatty stools; Low serum carotene

Vitamin E Inadequacy in Humans: Causes and Consequences
free full text http://advances.nutrition.org/content/5/5/503.full

It is estimated that >90% of Americans do not consume sufficient dietary vitamin E, as α-tocopherol, to meet estimated average requirements. What are the adverse consequences of inadequate dietary α-tocopherol intakes? This review discusses health aspects where inadequate vitamin E status is detrimental and additional vitamin E has reversed the symptoms. In general, plasma α-tocopherol concentrations <12 μmol/L are associated with increased infection, anemia, stunting of growth, and poor outcomes during pregnancy for both the infant and the mother. When low dietary amounts of α-tocopherol are consumed, tissue α-tocopherol needs exceed amounts available, leading to increased damage to target tissues. Seemingly, adequacy of human vitamin E status cannot be assessed from circulating α-tocopherol concentrations, but inadequacy can be determined from “low” values. Circulating α-tocopherol concentrations are very difficult to interpret because, as a person ages, plasma lipid concentrations also increase and these elevations in lipids increase the plasma carriers for α-tocopherol, leading to higher circulating α-tocopherol concentrations. However, abnormal lipoprotein metabolism does not necessarily increase α-tocopherol delivery to tissues. Additional biomarkers of inadequate vitamin E status are needed. Urinary excretion of the vitamin E metabolite α-carboxy-ethyl-hydroxychromanol may fulfill this biomarker role, but it has not been widely studied with regard to vitamin E status in humans or with regard to health benefits. This review evaluated the information available on the adverse consequences of inadequate α-tocopherol status and provides suggestions for avenues for research.
...
Human vitamin E deficiency symptoms include a progressive neurologic disorder, spinocerebellar ataxia, which occurs as a result of a dying back of peripheral nerves, specifically sensory neurons (20). As the vitamin E deficiency continues over time, the neurologic defects become so severe such that they that result in ataxia (16). With progressing deficiency in humans, there is also muscle deterioration, and this deterioration can include the heart muscle. Vitamin E deficiency ultimately results in death.

[jimmylegs]

Cerebellar ataxia and coenzyme Q10 deficiency
http://www.neurology.org/content/60/7/1206.short
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation

[jimmylegs]

Subacute Combined Degeneration Provoked by Nitrous Oxide Anethesia Patients with Cobalamin Deficiency
https://link.springer.com/chapter/10.10 ... 45147-3_47
Vitamin B12 deficiency leads to neuropathological changes in humans, principally subacute combined degeneration (SCD) of the spinal cord and polyneuropathy. Less commonly it causes encephalopathy leading to degeneration and optic neuropathy. Myelopathy may develop after nitrous oxide anesthesia in asymptomatic patients or those with borderline vitamin B12 deficiency or overlooked cases. It can result from chronic recreational use of N2O or industrial exposure.
...
SCD is manifested by: Parathesia, numbness, weakness of the extremities, optic changes, loss of muscle tone, loss of position sense, gait instability, ataxia, and eventual spastic paraplegia

[hellokc]

Cerebellar ataxia and coenzyme Q10 deficiency
http://www.neurology.org/content/60/7/1206.short
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation

Here some other articles to add to the atxia discussion:

Vitamin E and CoQ10 definciency can be found in Friedreich's Ataxia:
https://www.ncbi.nlm.nih.gov/pubmed/19049556

CoQ10 and other antioxidant may have benefits in Friedreich's Ataxia:
https://www.ncbi.nlm.nih.gov/pubmed/14695932