A 38-year-old male was diagnosed with spinal muscular atrophy (SMA) type 3a, previously misdiagnosed as muscular dystrophy. He began treatment with nusinersen after getting approval from health insurance service. Cerebrospinal fluid (CSF) was collected when nusinersen was intrathecally injected. We measured the neurofilament light chain (NfL) level using a single molecular array as an efficacy biomarker. The CSF NfL level was markedly decreased after finishing the loading dosage. Our case implies that nusinersen is also effective in adults with SMA as a biomarker from real-world evidence.

No abstract available.
Head* ; Parkinson Disease

No abstract available.
Botulinum Toxins* ; Dystonia ; Dystonic Disorders* ; Fingers* ; Humans

Vestibular rehabilitation therapy (VRT) is an exercise-based treatment program designed to promote vestibular adaptive and compensatory mechanisms already existing in the human brain. Although the evidence is sparse for improvement in subjects with central vestibular dysfunction following VRT, it improves postural stability in cerebellar diseases and reduces subjective complaints and fall risk in Parkinson disease. Possible mechanisms of recovery after central nervous system lesions may include neural sprouting, vicarious functions, functional reorganization, substitution, and plasticity. VRT regimens for patients with central causes should include balance and gait training, general strengthening and flexibility exercises, utilization of somatosensory and vision and utilization of alternate motor control strategies. VRT would be an option to relieve the symptoms of the many patients who have central dizziness.
Brain ; Central Nervous System ; Cerebellar Diseases ; Dizziness ; Exercise ; Gait ; Humans ; Parkinson Disease ; Plastics ; Pliability ; Rehabilitation

BACKGROUND AND PURPOSE: Our aims were to analyze the characteristics of parkinsonian features and to characterize changes in parkinsonian motor symptoms before and after the cerebrospinal fluid tap test (CSFTT) in idiopathic normal-pressure hydrocephalus (INPH) patients. METHODS: INPH subjects were selected in consecutive order from a prospectively enrolled INPH registry. Fifty-five INPH patients (37 males) having a positive response to the CSFTT constituted the final sample for analysis. The mean age was 73.7±4.7 years. The pre-tap mean Unified Parkinson's Disease Rating Scale motor (UPDRS-III) score was 24.5±10.2. RESULTS: There was no significant difference between the upper and lower body UPDRS-III scores (p=0.174). The parkinsonian signs were asymmetrical in 32 of 55 patients (58.2%). At baseline, the Timed Up and Go Test and 10-meter walking test scores were positively correlated with the total motor score, global bradykinesia score, global rigidity score, upper body score, lower body score, and postural instability/gait difficulties score of UPDRS-III. After the CSFTT, the total motor score, global bradykinesia score, upper body score, and lower body score of UPDRS-III significantly improved (p<0.01). There was a significant decrease in the number of patients with asymmetric parkinsonism (p<0.05). CONCLUSIONS: In the differential diagnosis of elderly patients presenting with asymmetric and upper body parkinsonism, we need to consider a diagnosis of INPH. The association between gait function and parkinsonism severity suggests the involvement of similar circuits producing gait and parkinsonian symptoms in INPH.
Aged ; Cerebrospinal Fluid ; Diagnosis ; Diagnosis, Differential ; Gait ; Humans ; Hydrocephalus* ; Hydrocephalus, Normal Pressure ; Hypokinesia ; Parkinson Disease ; Parkinsonian Disorders* ; Prospective Studies ; Walking