Nationwide survey of 780 Japanese patients with amyotrophic lateral sclerosis: their status and expectations from brain-machine interfaces.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that causes eventual death through respiratory failure unless mechanical ventilation is provided. Brain-machine interfaces (BMIs) may provide brain control supports for communication and motor function. We investigated the interests and expectations of patients with ALS concerning BMIs based on a large-scale anonymous questionnaire survey supported by the Japan Amyotrophic Lateral Sclerosis Association. METHODS: We surveyed 1918 patients with ALS regarding their present status, tracheostomy use, interest in BMIs, and their level of expectation for communication (conversation, emergency alarm, internet, and writing letters) and movement support (postural change, controlling the bed, controlling household appliances, robotic arms, and wheel chairs). FINDINGS: Seven hundred and eighty participants responded. Fifty-eight percent of the participants underwent tracheostomy. Approximately, 80% of the patients experienced stress or trouble during communication. For all nine supports, > 60% participants expressed expectations regarding BMIs. More than 98% of participants who underwent tracheostomy expected support with conversation and emergency alarms. Participants who did not undergo tracheostomy exhibited significantly greater expectations than participants with tracheostomy did regarding all five movement supports. Seventy-seven percent of participants were interested in BMIs. Participants aged < 60 years had greater interest in both BMIs. INTERPRETATION: This is the first large-scale survey to reveal the present status of patients with ALS and probe their interests and expectations regarding BMIs. Communication and emergency alarms should be supported by BMIs initially. BMIs should provide wide-ranging and high-performance support that can easily be used by severely disabled elderly patients with ALS.

A case of acute autonomic and sensory neuropathy (AASN) with antibody against a mixture of galactocerebroside and phospholipids.

A 62-year-old woman presented with paresthesia of limbs, gait disturbance, urinary retention and constipation following upper respiratory infection. Neurological examination revealed gait disturbance due to loss of position sense in her extremities with intact muscle power, and autonomic failure represented by orthostatic hypotension, constipation and autonomic bladder. Cerebrospinal fluid analysis showed normal cell counts with elevated protein levels. Nerve conduction study showed sensory nerve impairment with almost normal motor nerve conduction in her upper and lower extremities. Sympathetic skin response of both hands was unresponsive, indicating autonomic nervous dysfunction. We diagnosed her as having acute autonomic and sensory neuropathy (AASN) and treated her with intravenous immunoglobulin, which ameliorated her symptoms enabling her to walk without any assistance at the time of discharge. Screening tests of serum autoantibodies revealed positivity of antibody against a mixture of galactocerebroside (Gal-Cer) and phospholipids. According to previous literature, no specific antibodies have been identified in AASN. This case, therefore, suggests a possible role of anti-Gal-Cer antibody in the pathogenesis of AASN.

The Motor Unit Number Index of Subclinical Abnormality in Amyotrophic Lateral Sclerosis.

PURPOSE: Diagnosis of amyotrophic lateral sclerosis (ALS) at an early stage is challenging, thus making the enrollment of these patients in clinical trials infeasible. In this study, we investigated the potential usability of motor unit number index (MUNIX) to detect denervation of clinically intact muscles of ALS patients. METHODS: Thirty-two first dorsal interosseous muscles of 26 ALS patients were evaluated with both MUNIX and needle electromyography. RESULTS: The mean MUNIX value of first dorsal interosseous muscles was 131 in the control group, whereas it was 48, 34, 15, and 8 for Medical Research Council scales of 5, 4, 3, and 2, respectively, in the ALS patients. The optimal cutoff point gave a sensitivity of 0.89 and a specificity of 1.0. Among 9 intact first dorsal interosseous muscles of the ALS patients, 8 showed MUNIX values below the cutoff point, whereas only 2 first dorsal interosseous muscles showed denervation on needle electromyography. CONCLUSIONS: MUNIX could serve as a sensitive technique to detect denervation of clinically intact muscles of ALS patients.

Severely affected ALS patients have broad and high expectations for brain-machine interfaces.

Brain-machine interfaces (BMIs) may provide new communication channels and motor function to individuals with severe neurodegenerative diseases, but little is known about their interests in such devices. We investigated the interests of severely affected ALS patients in BMIs, and examined factors that might influence these interests. We conducted an anonymous, mail-back questionnaire survey of severely disabled ALS patients diagnosed using the revised El Escorial criteria. Thirty-seven patients responded to the questionnaire. Twenty-nine (78.4%) had undergone tracheostomy positive pressure ventilation. More than 80% of the patients were interested in communication support. Thirty-three (89.2%) felt stressed during communication. Among those using assistive communication devices (17 patients), 15 (88.2%) were not satisfied with them. More than 50% of the patients expressed an interest in BMIs. Their expectations of BMIs ranged widely from emergency alarm to postural change. The frequent use of personal computers tended to be correlated with an interest in invasive BMIs (p = 0.07). In conclusion, this was the first questionnaire survey demonstrating that severely affected ALS patients have broad and high expectations for BMIs. Communication was the most desired support from BMIs for such patients. We need to meet their widely ranging expectations of BMIs.

[Reversible hepatic myelopathy: a case report].

We report a case of reversible hepatic myelopathy. A 42-year-old female patient with 3-year history of alcoholic liver cirrhosis developed spastic gait, hyperreflexia and mild somatosensory disturbance in her lower extremities. The increased level of serum ammonia and the deficits of N30 and P38 in the tibial somatosensory evoked potentials (SEP) in conjunction with exclusion of the other known causes of myelopathy supported the diagnosis of her hepatic myelopathy. The ammonia lowering therapy by the oral administration of lactulose successfully improved the spastic gait accompanied with the emergence of N30 and P38 in the tibial SEP. Although liver transplantation was known to be the only therapy for hepatic myelopathy in the literatures, our case showed that the ammonia lowering therapy can be effective for the early stage of hepatic myelopathy.

[Communication with ALS patients: neurosurgical approach].

By progression of the disease, motor neurons degenerate in patients with amyotrophic lateral sclerosis (ALS) eventually lose nearly all voluntary muscles in the body. They are awake and aware but cannot move or communicate (locked-in state). Since the function of the brain is preserved, one possible measure to support their communication is to interpret their motor intention by decoding (deciphering) brain signals and present it with external devices. This technology called "brain-machine interface (BMI)" is now close to clinical use in Japan and USA.In our system, we record electrocorticogram (ECoG) obtained with subudural electrodes during their motor imagery, decode it and determine the movement they intended. So far, one patient of ALS with severe paralysis, implanted with this electrodes, successfully operated the PC communication tool only by thinking.

[Survey on the attitude toward genetic testing of neurologists certified by the Japanese Society of Neurology].

To clarify the attitude toward genetic testing for neuromuscular diseases, a questionnaire was sent to 4,762 neurologists certified by the Japanese Society of Neurology. By December 21, 2011, 1,493 questionnaires (31.4%) were returned. Of these, 1,233 (82.6%) had experienced genetic testing, but only 396 (26.5%) had referred to the guideline for genetic testing of the Japanese Society of Neurology (2009). The numbers of respondents who were positive, or more positive than negative for genetic testing for myotonic dystrophy type 1 (DM1), Huntington's disease (HD), and familial amyloid polyneuropathy (FAP) were 753 (50.4%), 915 (61.3%), and 980 (65.6%), respectively. The predominant reason for a positive attitude toward genetic testing was to confirm or exclude the diagnosis. Conversely, the predominant reason for a negative attitude toward genetic testing differed between the diseases. For DM1, it was to confirm the diagnosis without genetic testing. For HD, it was that genetic testing would not result in effective prevention or therapy. In FAP, it was that post-testing psychosocial support for the patient and their family was difficult. Common to DM1, HD, and FAP, a significant number of respondents (approximately 60%) felt it difficult to explain the negative aspects that might occur after the disclosure of test results. Concerning predictive or prenatal genetic testing, most respondents referred at-risk individuals to specialized genetic counseling clinics. In general, neurologists are likely to conduct genetic testing properly in consideration not only of the characteristics of the diseases but also of the circumstances of each patient and his or her family. To support neurologists who are involved in genetic testing, the guidelines should be more easily accessible. Many respondents wanted information on the institutions that provide genetic counseling and testing; however, financial support to such institutions is indispensable for fulfilling this requirement.

[Approach of gene medical treatment in neurological diseases with the neurologist's. "Approach of support to the patients with inherited and incurable neurological diseases"].

Advancements in medical genetics have increased access to genetic diagnosis in clinical neurology and accompanying genetic counseling. However, its use has not yet spread and the frequency of general biochemistry inspection in medical treatment and by patients remains low. Many problems remain for doctors, though sociocultural and other various causes exist. Thus, a network of care specialists for inherited and incurable neurological diseases has been established, consisting of multi-occupational categories in medical treatment, health, and welfare such as clinical inheritance specialists, psychiatrists, public health nurses, and medical social workers, to meet the rise in availability of such methods. Businesses in areas such as training, consultation, and field research have arisen. An educational campaign for neurologists who have taken a central role in treatment of inherited and incurable neurological diseases, and related information have been disseminated to those working in fields related to regional welfare of neurological medicine, and patients are now supported totally by team and regional counseling. These new developments in support systems for inherited and incurable neurological diseases, have steadily achieved the respective goals. We aim to promote its evolution to a more advanced network to promote the independence of individual patients in the future.