[A case of Holmes tremor in which 123I-IMP SPECT and MRI findings suggest damage to the cerebellothalamic tract and the dentato-rubro-olivary pathway].

A 75-year-old woman was referred to our department in October 2022 with ataxia and involuntary movements of the right upper and lower limbs. She had experienced a left pontine hemorrhage in March 2021, which was managed conservatively. However, she had residual right-sided hemiplegia. In addition, she had cerebellar ataxia and a 2 |Hz resting tremor of the right upper and lower limbs, which was enhanced while maintaining posture and contemplation. Based on her history, and the findings of MRI and nuclear medicine imaging, we diagnosed the patient with Holmes tremor due to pontine hemorrhage. Holmes tremor is a rare movement disorder secondary to brainstem and thalamic lesions, characterized by a unilateral low-frequency tremor. In this case, 123I-IMP SPECT and MRI shows damage to the cerebellothalamic tract and dentaro-rubro-olivary pathway.

[A case of facial-onset sensory and motor neuronopathy (FOSMN) with cerebellar ataxia and abnormal decrement in repetitive nerve stimulation test].

A 59-year-old woman presented with a 7-year history of facial numbness on the left side, and gradual worsening of symptoms. Over several years, facial muscle weakness, dysarthria, tongue atrophy and fasciculation had progressed. Then, she developed cerebellar ataxia affecting the left extremities, in addition to earlier symptoms. Brain MRI revealed cerebellar atrophy, and 99mTc-SPECT depicted cerebellar hypoperfusion. A repetitive nerve stimulation test (RNS) indicated abnormal decrement in the nasalis and trapezius muscles on the left side. Facial-onset sensory and motor neuronopathy (FOSMN) was diagnosed. Administration of intravenous immunoglobulin resulted in improvement of some symptoms. Although cerebellar ataxia is not a common symptom of FOSMN, a case showing TDP-43-positive glial cytoplasmic inclusions in cerebellar white matter has been reported. Therefore, it is possible that FOSMN may cause cerebellum impairment in some patients. Furthermore, RNS positive rate in the trapezius muscle is known to be high in amyotrophic lateral sclerosis (ALS) patients. It is speculated that RNS of the affected muscles in FOSMN may show abnormal decrement by the same mechanisms as ALS.

Metronidazole-induced encephalopathy caused by hyperbaric oxygen therapy in a patient with mandibular osteomyelitis.

Metronidazole (MNZ) is prescribed for the treatment of infection caused by anaerobic bacteria and protozoa. Metronidazole-induced encephalopathy (MIE) has been known to be a side-effect, although its onset ratio is unclear. However, to the best of our knowledge, MIE associated with hyperbaric oxygen therapy (HBO) has not been previously reported. Here, we present the case of a 68-year-old man with mandibular osteomyelitis who received metronidazole for 49 days and received five times HBO therapy. He visited our hospital for evaluation and treatment of peripheral neuropathy, speech disturbance, nausea, and disturbance of gait after 47 days of initiating metronidazole treatment. Brain magnetic resonance imaging revealed hyperintense lesions in the cerebellar dentate nuclei, which was consistent with MIE. The patient's ataxic symptoms improved in 15 days after the discontinuation of MNZ. This is the first report demonstrating case of MIE could be related with HBO, as far as we had searched.

[Therapeutic developments in chronic ataxias]. / Avances en el tratamiento de las ataxias crónicas.

Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific treatment is only available for some of the chronic ataxias, more specifically those related to a known metabolic defect, such as abetalipoproteinemia, ataxia with vitamin E deficiency, and cerebrotendinous xanthomatosis. Treatment based on a diet with reduced intake of fat, supplementation of oral vitamins E and A, and the administration of chenodeoxycholic acid could modify the course of the disease. Although for most of autosomal recessive ataxias there is no definitive treatment, iron chelators and antioxidants have been proposed to reduce the mitochondrial iron overload in Friederich's ataxia patients. Corticosteroids have been used to reduce ataxia symptoms in ataxia telangiectasia. Coenzyme Q10 deficiency associated with ataxia may be responsive to Co Q10 or ubidecarenone supplementations. Early treatment of these disorders may be associated with a better drug response.

Avances en el tratamiento de las ataxias crónicas / [Therapeutic developments in chronic ataxias].

Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific treatment is only available for some of the chronic ataxias, more specifically those related to a known metabolic defect, such as abetalipoproteinemia, ataxia with vitamin E deficiency, and cerebrotendinous xanthomatosis. Treatment based on a diet with reduced intake of fat, supplementation of oral vitamins E and A, and the administration of chenodeoxycholic acid could modify the course of the disease. Although for most of autosomal recessive ataxias there is no definitive treatment, iron chelators and antioxidants have been proposed to reduce the mitochondrial iron overload in Friederich’s ataxia patients. Corticosteroids have been used to reduce ataxia symptoms in ataxia telangiectasia. Coenzyme Q10 deficiency associated with ataxia may be responsive to Co Q10 or ubidecarenone supplementations. Early treatment of these disorders may be associated with a better drug response.

Avances en el tratamiento de las ataxias crónicas. / [Therapeutic developments in chronic ataxias].

Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific treatment is only available for some of the chronic ataxias, more specifically those related to a known metabolic defect, such as abetalipoproteinemia, ataxia with vitamin E deficiency, and cerebrotendinous xanthomatosis. Treatment based on a diet with reduced intake of fat, supplementation of oral vitamins E and A, and the administration of chenodeoxycholic acid could modify the course of the disease. Although for most of autosomal recessive ataxias there is no definitive treatment, iron chelators and antioxidants have been proposed to reduce the mitochondrial iron overload in Friederichs ataxia patients. Corticosteroids have been used to reduce ataxia symptoms in ataxia telangiectasia. Coenzyme Q10 deficiency associated with ataxia may be responsive to Co Q10 or ubidecarenone supplementations. Early treatment of these disorders may be associated with a better drug response.

Etiology of Konzo, epidemic spastic paraparesis associated with cyanogenic glycosides in cassava: role of thiamine deficiency?

Konzo is a syndrome of symmetrical, non-progressive, non-remitting spastic paraparesis occurring in epidemic and endemic forms in several countries in Africa, invariably associated with monotonous consumption of inadequately processed bitter cassava roots (Manihot esculenta) with very minimal protein supplementation. Despite numerous epidemiological, clinical and biochemical studies by authors in several countries aimed at elucidating the etiological mechanisms of Konzo, the etiology remains unknown. High cyanide consumption with low dietary sulfur intake due to almost exclusive consumption of insufficiently processed bitter cassava roots was proposed as the cause of Konzo, but there has been no evidence of a causal association between cyanide consumption and Konzo. In this paper a new etiological mechanism of thiamine deficiency is presented, based on detailed review of the epidemiological, clinical and biochemical features of Konzo. It is postulated that in Konzo patients, a severe exacerbation of thiamine deficiency results from the inactivation of thiamine that occurs when, in the absence of dietary sulfur-containing amino acids; the sulfur in thiamine is utilized for the detoxification of cyanide consumed in improperly processed bitter cassava. Thiamine is known to be rendered inactive when the sulfur in its thiazole moiety is combined with hydrogen cyanide. This hypothesis may stimulate studies examining the role of thiamine in the etiology of Konzo, and may lead to the formulation of strategies for the prevention and treatment of this debilitating disease.

[Clinical experiences on acupuncture for treatment of cerebellar ataxia after stroke].

To introduce the authors' clinical experiences on acupuncture for treatment of cerebellar ataxia after stroke. Through the past five years in clinical practice, the authors summed up and classified a series of treatment protocols based on personal clinical experiences. And these treatment protacols applied to treat cerebella ataxia after stroke are: needling in row at occipitoposterior region; scattered needling at forehead, vertex of head and temporal area; skillful application of acupoints for opening orifices or restoring resuscitation; combination of cervical Jiaji points (cervical paravertebral points), and body acupuncture according to the syndrome differentiation etc., which showed preferable therapeutic effect in clinic.

[Vitamin B12 deficiency and neurological disorders: a case report and literature review]. / Carence en vitamine B12, ataxie cérébelleuse et troubles cognitifs.

INTRODUCTION: Vitamin B12 deficiency is often associated with neurological disorders of which combined sclerosis of the spinal cord is a common manifestation. CASE REPORT: We report the case of a woman who presented cerebellar ataxia and cognitive deficits associated with leukoencephalopathy on the brain MRI. These symptoms were associated with vitamin B12 deficiency due to Biermer's disease. Vitamin B12 supplementation led to symptom improvement. Later her treatment was discontinued and the patient's clinical status worsened to a bedridden status. CONCLUSION: Ataxia cerebellar dementia and leukoencephalopathy can result from vitamin B12 deficiency. To limit the risks of sequelae, vitamin B12 supplementation should be started at an early stage.

Auditory feedback control for improvement of gait in patients with Multiple Sclerosis.

OBJECTIVE: To study the use of auditory feedback for gait management and rehabilitation in patients with Multiple Sclerosis (MS). METHODS: An auditory feedback cue, responding to the patient's own steps in closed-loop, was produced by a wearable motion sensor and delivered to the patient through ear phones. On-line (device on) and residual short-term therapeutic effects on walking speed and stride length were measured in fourteen randomly selected patients with gait disturbances predominantly due to cerebellar ataxia. RESULTS: Patients showed an average improvement of 12.84% on-line and 18.75% residually in walking speed. Average improvement in stride length was 8.30% on-line and 9.93% residually. The improvement results are particularly noteworthy when compared with the lack of change in healthy control subjects. CONCLUSIONS: Patients with MS using auditory feedback cues showed improvement in walking abilities.

Cerebellar ataxia due to isolated vitamin E deficiency.

Ataxia is a common and important neurological finding in medical practice. Severe deficiency of Vitamin E can profoundly affect the central nervous system and can cause ataxia and peripheral neuropathy resembling Friedreich's ataxia. Vitamin E deficiency can occur with abetalipoproteinemia, cholestatic liver disease or fat malabsorption. Ataxia with isolated Vit E deficiency (AVED) is an Autosomal Recessive genetic disorder with a mutation in the alpha tocopherol transfer protein gene (TTPA). This condition responds to high dose of Vit E and is one of the important causes of treatable ataxia. We report a young patient with Ataxia with isolated Vit E deficiency (AVED) who responded partially to replacement of Vitamin E.

Treatment of ataxia in cortical cerebellar atrophy with the GABAergic drug gabapentin. A preliminary study.

The aim of this work was to investigate the efficacy of the GABAergic drug gabapentin in the treatment of the cerebellar signs caused by cortical cerebellar atrophy (CCA). Ten patients with CCA received gabapentin in single doses of 400 mg in an open-label study; thereafter, daily administration of 900-1,600 mg of gabapentin was continued during at least 4 weeks. An ataxia scale based on clinical findings was used to evaluate the cerebellar signs at baseline and after administration of the drug. A statistically significant improvement of the ataxia scores was found after single doses of 400 mg of gabapentin and after the administration of 900-1,600 mg of this drug during 4 weeks, as compared to the results obtained at baseline. An important clinical amelioration was also evident. Gabapentin has been demonstrated to be capable of improving the cerebellar signs in cases of CCA, after single doses and after continued administration of the drug during 4 weeks. GABAergic enhancement or supplementation could play an important role in the treatment of diseases of the cerebellar cortex associated with a deficit of GABA.

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.

Two brothers had late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in skeletal muscle. Both patients improved on high-dose CoQ10 supplementation, stressing the importance of CoQ10 deficiency in the differential diagnosis of cerebellar ataxia, even when onset is late.

Thiamine deficiency: a cause of childhood ataxia not to be ignored.

We report four cases of childhood ataxia with and without encephalopathies which were successfully managed with thiamine supplementation and diagnosed in retrospect as being caused by thiamine deficiency. The clinical presentations were similar to those previously reported amongst adolescents and adults who ingested the larvae of Anaphe venata, a local delicacy among the Ijeshas of south-western Nigeria, during the rainy season. This has been called seasonal ataxia syndrome. The cases were of interest because the disorder was not described in children in the previous report, which might indicate a worsening nutritional status in these communities. This report is to alert child health physicians in the developing world to the possibility of a pre-existing thiamine deficiency progressing into ataxic disorders when certain foods are ingested.

Acute disseminated encephalomyelitis: clinical and MRI study from South India.

Clinical and MRI appearances were reviewed in 25 cases of acute disseminated encephalomyelitis (ADEM) seen in a university hospital in South India. Specific viral infections and Semple antirabies vaccination together accounted for 56% of antecedent events. Clinical and MRI features were suggestive of diffuse/multifocal form in 15 patients. Of the 10 patients with clinically site restricted forms, two patients with dorsal myelitis and one patient with polyradiculitis had asymptomatic cerebral white matter lesions. MRI was essentially normal in all the four patients with acute ataxia following varicella infection. Of the 13 patients with multiple white matter lesions, lesions were asymmetrical in size and morphology in nine patients and symmetrical in four patients. Two of them had extensive destructive lesions and one patient had multiple discrete lesions. Lesions occurred at the corticomedullary junctions in seven patients. The distribution was subcortical and/or centrum semiovale in 10 patients. The regions affected include internal capsule(s), thalami, brainstem, cerebellar peduncles and cerebellum. No specific differences were observed in patients with ADEM following specific viral infections, Semple antirabies vaccination, and nonspecific upper respiratory tract infections. There was fairly good correlation between clinical and MRI findings in 81% of patients. Patients with incomplete recovery showed extensive and/or multifocal lesions.

Radiation-induced rhombencephalopathy.

We report the case of a patient who underwent radiotherapy of the neck because of an epidermoid carcinoma in Rosenmuller's fossa. Eleven months later, T1-weighted brain magnetic resonance imaging (MRI) revealed a bulbo-pontine lesion, and the clinical course and sequential MRI results led to a diagnosis of radionecrosis-induced rhombencephalopathy. At a distance of more than three years, the lesion is no longer visible on MRI images but the severe neurological deficits remain. The clinical picture has not been improved by treatment with prednisone, hyperbaric oxygen, symptomatic therapies or anticoagulants.

[Ataxia due to vitamin E deficiency]. / Ataksi pa grunn av vitamin E-mangel.

Few metabolic or degenerative ataxias can be treated pharmacologically. However ataxia due to vitamin E deficiency can be treated effectively with vitamin E supplementation if it is diagnosed early. We describe two ataxic patients with vitamin E deficiency where this was the definite or probable cause of the ataxia. Both polyneuropathy and cerebellar dysfunction were found. The deficiency was due to intestinal resection in one case, whereas the exact mechanism was unknown in the other case. In one of the patients there was a clear improvement of the ataxia after vitamin E supplementation, but this had to be taken for about six to 12 months. In the other patient the symptom progression was halted, but only slight improvement was observed. This patient therefore underwent leftsided stereotaxic thalamotomy, which markedly alleviated his rightsided ataxic symptoms. We stress the importance of testing for vitamin E (alpha-tocopherol) in all patients with ataxia where there is no other known cause.

Is electrostimulation preferable to surgery for upper limb ataxia?

Ataxic syndromes of the upper limbs are observed in various situations but are usually a result of lesions involving the efferent pathways of the cerebellum, the superior cerebellar peduncles and midbrain. The commonest causes are multiple sclerosis, brain injury and focal neoplastic or vascular lesions. Cerebellar tremor, which usually comprises a postural and intentional component, is the commonest clinical form. In this review, we assess the value of the various surgical techniques in the treatment of this particular form of ataxia of the upper limbs.

Hemiataxia-hypesthesia: a thalamic stroke syndrome.

Six patients had isolated hemiataxia and ipsilateral sensory loss, as a manifestation of thalamic infarction in the thalamogeniculate territory. Acute hemiataxia-hypesthesia was not found in 1075 other patients from the Lausanne Stroke Registry who were admitted during the same period. Stroke onset was progressive in five patients and immediately complete in one. Five patients had an objective sensory loss. In two patients this affected light touch, pain and temperature sense, and in another three light touch, pain temperature, position and vibration sense. One patient had a purely subjective sensory disturbance. The sensory deficit cleared or was clearing although the ataxia persisted in all patients. On lesion mapping on CT or MRI, all patients had involvement of the lateral part of the thalamus (ventral posterior nucleus and ventral lateral nucleus). The presumed causes of stroke were cardioembolism in one patient, posterior cerebral artery occlusion in one patient and meningovascular syphilis in one patient, hypertensive small vessel disease in two patients, and undetermined in one patient. Hemiataxia-hypesthesia is a new stroke syndrome involving the perforating branches to the lateral thalamus, but in which small vessel disease may not be the leading cause.