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Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
ObjectiveTo describe a new phenotype associated with a novel variant in BAG3 : autosomal dominant adult-onset distal hereditary motor neuronopathy.
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The various forms of hereditary motor neuron disorders and their historical descriptions
Motor neuron disorders comprise a clinically and pathologically heterogeneous group of neurologic diseases characterized by progressive degeneration...
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Spectrum of SPTLC1-related disorders: a novel case of ‘Ser331 syndrome’ that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases
We report a patient with early-onset hereditary sensory and autonomic neuropathy type 1A (HSAN-1A) who developed a distinct phenotype, with tongue...
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Diagnostic value of neurofilaments in differentiating motor neuron disease from multifocal motor neuropathy
ObjectiveTo evaluate the performance of serum neurofilament light chain (NfL) and cerebrospinal fluid (CSF) phosphorylated neurofilament heavy chain...
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Myasthenia gravis coexisting with HINT1-related motor axonal neuropathy without neuromyotonia: a case report
BackgroundHINT1 mutations cause an autosomal recessive axonal neuropathy with neuromyotonia. This is a first case report of coexistence of...
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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
BackgroundRecessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal...
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Neurological update: hereditary neuropathies
In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially...
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Sensory neuropathy in amyotrophic lateral sclerosis: a systematic review
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the degeneration of both upper and lower motoneurons,...
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New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment
BackgroundGonadal dysgenesis with minifascicular neuropathy (GDMN) is a rare autosomal recessive condition associated with biallelic DHH pathogenic...
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Co-occurrence and metabolic biomarkers of sensory and motor subtypes of peripheral neuropathy from paclitaxel
PurposeChemotherapy-induced peripheral neuropathy (CIPN) is the major treatment-limiting toxicity of paclitaxel, which predominantly presents as...
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Insulinoma with peripheral neuropathy: a case report
BackgroundInsulinomas are rare neuroendocrine tumors that typically present with hypoglycemic crises. Peripheral neuropathy is an uncommon...
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Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
BackgroundTo specify peripheral nerve affection in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) by correlating high-resolution...
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Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Charcot-Marie-Tooth disease (CMT) is a heterogeneous set of hereditary neuropathies whose genetic causes are not fully understood. Here, we...
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Upper and lower limb tremor in Charcot–Marie–Tooth neuropathy type 1A and the implications for standing balance
BackgroundNeuropathic tremor occurs in Charcot–Marie–Tooth neuropathy type 1A (CMT1A; hereditary motor and sensory neuropathy, HMSN), although the...
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A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family
The Dynactin 1 ( DCTN1 ) encodes the p150 subunit of dynactin, which engages retrograde axonal transport. Missense mutations in DCTN1 have been linked...
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Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
Mitochondrial disorders are a group of clinically and genetically heterogeneous multisystem disorders and peripheral neuropathy is frequently...
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Hereditary transthyretin amyloidosis: a case report
BackgroundHereditary transthyretin amyloidosis is an uncommon multisystem disorder caused by mutation of the transthyretin protein, leading to...
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Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients...
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Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation
IntroductionNAGLU encodes N-acetyl-alpha-glucosaminidase, an enzyme that degrades heparan sulfate. Biallelic NAGLU mutations cause...
