Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation.

Background: Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant disease characterized by amyloid fibril deposition. The TTR c.148G > T mutation (V30L) in ATTR is rarely reported, and its biochemical properties are unknown.

A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.

Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous diseases and previous studies have reported that the compound heterozygous recessive MME variants cause dHMN. Our study found a novel homozygous MME variant and a reported compound heterozygous MME variant in two Chinese families, respectively. Next-generation sequencing and nerve conduction studies were performed for two probands.

Spinal and bulbar muscular atrophy combined with hypertrophic cardiomyopathy and Brugada-pattern electrocardiographic changes: A case report.

Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked recessive neurodegenerative disorder caused by the excessive expansion of cytosine-adenine-guanine repeat sequences in the androgen receptor gene encoded on the Xq11-12 chromosome. SBMA primarily affects adult males and is characterized by weakness and atrophy of the proximal limb muscles, often involving the bulbar muscles. In addition to neuromuscular deficits, nonneuronal symptoms such as hypertension, hyperlipidemia, and liver dysfunction are often observed in patients with SBMA.

Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.

The mutations of the feline leukemia virus subgroup C receptor-related protein 1 (FLVCR1) cause ataxia with retinitis pigmentosa. Recent studies indicated a large variation in the phenotype of FLVCR1-associated diseases. In this report, we describe an adult male who manifested first with tremors in his third decade, followed by retinitis pigmentosa, sensory ataxia, and sensory neuropathy in his fourth decade.

Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation.

This study was intended to find out more about the clinical characterizations of patients carrying transthyretin (TTR) E61K (p.Glu81Lys) gene mutation and the biochemical characterization of this mutant protein. Five patients who had been diagnosed with hereditary transthyretin amyloidosis and two asymptomatic carriers carrying TTR E61K gene mutation were reported.

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy.

Background: The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in or sarcoglycan genes. This study aimed to determine the genetic diagnosis of three patients from two unrelated families with a suspected sarcoglycanopathy or dystrophinopathy based on their clinical, radiological, and pathological features, for whom routine genomic detection approaches failed to yield a definite genetic diagnosis.

Methods: Muscle-derived reverse transcription-polymerase chain reaction analysis and/or TA cloning of , , , , and mRNA were performed to identify aberrant transcripts.

Patterns of myelinated nerve fibers loss in transthyretin amyloid polyneuropathy and mimics.

Objective: The present study was intended to analyze the characteristics of myelinated nerve fibers density (MFD) of transthyretin amyloid polyneuropathy (ATTR-PN) and other similar neuropathies.

Methods: A total of 41 patients with ATTR-PN, 58 patients of other common peripheral neuropathies, and 17 age-and gender-matched controls who visited the First Hospital of Peking University and performed sural nerve biopsy between June 2007 and August 2021 were included for analysis of MFD.

Results: Except the vasculitic neuropathy group, the total and small MFD of patients in the ATTR-PN group were significantly lower than those of other disease groups.

Skeletal Muscle Involvement Pattern of Hereditary Transthyretin Amyloidosis: A Study Based on Muscle MRI.

Objects: This study was intended to explore the characteristics of muscle magnetic resonance imaging (MRI) of patients with hereditary transthyretin amyloidosis (ATTRv amyloidosis) prospectively.

Methods: The clinical data of 20 patients with ATTRv amyloidosis at our hospital between July 2020 and August 2021 were analyzed. MRI of lower limbs including calf muscles was performed in all these 20 patients and MRI of thigh muscles was performed in 16 of them.

Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis.

Background: Gly83Arg variation is a type of mutation specific to the Chinese population. Patients of hereditary transthyretin amyloidosis (ATTR) with Gly83Arg variation predominantly present with blurred vision and most of these cases are reported by ophthalmologists. There is currently no systematic assessment of extraocular features of ATTR with Gly83Arg variation.

Vagus nerve ultrasound in transthyretin familial amyloid polyneuropathy: A pilot study.

Background And Purpose: Autonomic dysfunction is common in transthyretin familial amyloid polyneuropathy (TTR-FAP). Because ultrasonography is a powerful tool to study peripheral neuropathy, vagus nerve (VN) ultrasonography was used in our study to investigate the possible changes of the dimension of VN in TTR-FAP.

Methods: Eighteen patients with TTR-FAP and 17 age- and gender-matched individuals without any neuropathies were enrolled in a pilot study.

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect. Peripheral neuropathy remains a classical but underdiagnosed complication of cblC defect, especially in late-onset cblC disease caused by mutations in the methylmalonic aciduria type C and homocysteinemia () gene.

[Effects of cerium oxide nanoparticles on cognitive function in 48 h sleep deprived male mice].

Objective: To study the effects of cerium oxide nanoparticles( CeO_2 NPs)on cognitive function in 48 hours of sleep deprived male mice and explore its mechanism.

Methods: Thirty-six healthy clean ICR male mice( four weeks old) were randomly divided into 6 groups: blank control group, solvent control group, sleep deprivation control group, low, medium and high dose groups of CeO_2 NPs. 1 m L of distilled water were given to mice of blank group, 1 m L of solvent were given to mice of solvent control and sleep deprivation control group, 1 mL of CeO_2 NPs solvent( 4, 8, 16 mg/kg) were administered to mice of low, medium and high dose groups of CeO_2 NPs.