Publications by authors named "Nanaka Yamaguchi-Takegami"
We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility.
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- - Adrenomyeloneuropathy (AMN) is an X-linked genetic disorder related to mutations in the ABCD1 gene, leading to issues like spastic paraparesis and cerebral complications.
- - A 54-year-old man was diagnosed with AMN after finding a harmful splice-site variant in the ABCD1 gene and elevated very long-chain fatty acids in his system.
- - Analysis of ABCD1 mRNA showed reduced levels of this gene's expression and a specific deletion, suggesting that these splice-site changes could reveal more about the underlying causes of adrenoleukodystrophy (ALD).
Bacterial meningitis is a life-threatening condition that is mainly caused by Streptococcus pneumoniae and Neisseria meningitis. Although Streptococcus gallolyticus subsp. pasteurianus (Sgp) is also known to cause meningitis, its frequency is quite low, especially in adults.
View Article and Find Full Text PDFCharcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with motor symptoms manifesting late in life. Her pain and hearing loss may have been related to CMT.
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- Anti-Lactosylceramide (LacCer) antibodies have been linked to neurological inflammation in both the peripheral and central nervous systems, though there are only a few documented cases.
- The study highlights two cases of patients who tested positive for anti-LacCer antibodies and had a long history of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) diagnosed during their teenage years.
- It suggests that the development of central nervous system lesions, particularly in the medulla oblongata, during adulthood may be a distinct feature of neurological disorders associated with anti-LacCer antibodies in individuals with juvenile-onset CIDP.
Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein report a 28-year-old Japanese man who was initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block at 9 years old and developed weakness in the soft palate and extremities. The myocardial tissue dissected during implantation of the ventricular-assisted device showed a dilated phase of hypertrophic cardiomyopathy and intracellular accumulation of proteinase K-resistant desmin aggregates.
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