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MRI of the lumbar spine showed degenerative retrolisthesis of L5 on S1 with a degenerative L5-S1 disk cartilage and with a small left-sided disk protrusion (sagittal view).
Source publication
Vitamin E deficiency can be observed in patients with malabsorption syndromes or inherited diseases such as ataxia. It is unusual for it to be a result of dietary insufficiency due to its presence in a wide variety of foods. Patients with vitamin E deficiency can present with neuromuscular disorders such as ataxia, hyporeflexia, spinocerebellar syn...
Context in source publication
Context 1
... of the brain confirmed normal intracranial appearances including no cerebellar atrophy. MRI of the thoracic spine was unremarkable, and MRI of the lumbar spine showed degenerative retrolisthesis of L5 on S1 with a degenerative L5-S1 disk cartilage and with a small left-sided disk protrusion without descending or exiting nerve root compression (Figures 1, 2). Patient was diagnosed with sensory axonopathy secondary to vitamin E deficiency. ...
Citations
... Despite some disagreement in the literature, a somatosensory deficit is unlikely to be a feature of SCA6 [31]. Other inherited causes of combined somatosensory and cerebellar impairment include Ataxia with Vitamin E Deficiency (AVED) [32], Cerebrotendinous xanthomatosis [33,34], Polymerase Gamma-Related Ataxia [34], a variant of CMT which is associated with cerebellar disease [35] and Ataxia with Oculomotor Apraxia types 1 and 2 [36 && ]. Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) is commonly associated with an axonal neuropathy. ...
Purpose of review:
An increasing number of peripheral neuro(no)pathies are identified as involving other components of the neurological system, particularly those that further impair balance. Here we aim to outline an evidence-based approach to the diagnosis of patients who present with a somatosensory disorder which also involves at least one other area of neurological impairment such as the vestibular, auditory, or cerebellar systems.
Recent findings:
Detailed objective investigation of patients who present with sensory impairment, particularly where the degree of imbalance is greater than would be expected, aids the accurate diagnosis of genetic, autoimmune, metabolic, and toxic neurological disease.
Summary:
Diagnosis and management of complex somatosensory disorders benefit from investigation which extends beyond the presenting sensory impairment.
... En primer lugar (Fig. 3), se debe impulsar la evaluación de las causas tratables, como las vasculares, desmielinizantes o inmunes [9]. Posteriormente, se deben descartar datos clínicos sugerentes de ataxia de Friedreich [33], como la cardiopatía; o la presencia de disfunción vestibular, que orientaría al recientemente descrito síndrome de ataxia cerebelosa, arreflexia vestibular y neuropatía [34] o al déficit de vitamina E [35], y orientar si se sospecha el diagnóstico genético, dado que la ataxia de Friedreich y el síndrome de ataxia cerebelosa, arreflexia vestibular y neuropatía están causados por expansiones intrónicas, que no se detectan adecuadamente con las técnicas de secuenciación masiva [36]. La presencia de alteraciones oculomotoras y otras manifestaciones clínicas, como disartria, epilepsia o sordera, así como la presencia de alteraciones en la biopsia muscular, deben orientar hacia el diagnóstico de una citopatía mitocondrial. ...
Introduction:
Sensory ataxia is a frequent symptom in numerous neurological pathologies, being a frequent clinical manifestation in diseases related to genes influencing mitochondrial metabolism, such as POLG. The aim is to describe the differential characteristics of four patients with pathogenic variants in the POLG gene with clinical expression in the form of adult-onset ataxia and sensory neuropathy.
Patients and methods:
We reviewed the clinical features of patients diagnosed with POLG pathogenic variants from a tertiary hospital.
Results:
Three men and one woman (mean age: 40 years; 27-46) with no family history were studied with symptoms for 10 years. All patients developed a gait disturbance related to sensory ataxia. All patients had oculomotor abnormalities. The neurophysiological study showed a sensory axonal neuropathy. Brain magnetic resonance imaging studies showed atrophy and cerebellar white matter lesion and muscle magnetic resonance imaging showed fatty substitution in thigh and calf muscles without a specific pattern. A molecular study revealed pathogenic variants in the POLG gene.
Conclusions:
In cases of adult-onset sensory ataxia, the molecular analysis of the POLG gene should be considered, especially if associated with sensory neuropathy or ophthalmoparesis.
α-Tocopherol (α-T) is a required dietary nutrient for humans and thus is a vitamin. This narrative review focuses on vitamin E structures, functions, biological determinants and its deficiency symptoms in humans. The mechanisms for the preferential α-T tissue enrichment in the human body include the α-T transfer protein (TTPA) and the preferential metabolism of non-α-T forms. Potential new α-T biomarkers, pharmacokinetic data, and whether there are better approaches to evaluate and set the α-T dietary requirement are discussed. Finally, the possible role of α-T supplements in delay of chronic diseases and the evaluation of vitamin E safety are considered.
