- Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations. [Journal Article]
- JMJ Med Genet 2018 Nov 10
- CONCLUSIONS: MME mutations that segregate in an autosomal recessive pattern are associated with a late-onset CMT2 phenotype, yet we could not demonstrate that MME variants in heterozygosis cause neuropathy. Our data highlight the importance of establishing an accurate genetic diagnosis in patients carrying MME mutations, especially with a view to genetic counselling.
- Association between Early Neuroretinal Dysfunction and Peripheral Motor Unit Loss in Patients with Type 1 Diabetes Mellitus. [Journal Article]
- JDJ Diabetes Res 2018; 2018:9763507
- CONCLUSIONS: The motor unit loss on the one hand and neuroretinal dysfunction on the other hand are already present in T1DM patients without DPN. The relationship between neuroretinal dysfunction and motor unit decline supports the hypothesis that neuroretina may represent a potential "window" to track the early neurogenic damage in diabetes.
- Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic. [Journal Article]
- OJOrphanet J Rare Dis 2018 Nov 03; 13(1):194
- CONCLUSIONS: HRUS reveals significant multifocal regional nerve swellings with reduced echo intensity as the morphological equivalent of electrophysiological peripheral nerve affection in AMN patients. Ultrasound and NCS characteristics in AMN seem to differ from other demyelinating neuropathies like CIDP or CMT1a.
- Expanded teased nerve fibre pathological conditions in disease association. [Journal Article]
- JNJ Neurol Neurosurg Psychiatry 2018 Nov 01
- CONCLUSIONS: Teased nerve fibre Types J-M associate with commonly seen pathological diagnosis and are helpful in the consideration of specific neuropathy diagnoses.
- Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). [Journal Article]
- JCJ Clin Neurosci 2018 Oct 29
- Diseases due to mutations of polymerase γ (POLG) usually present with progressive external ophthalmoplegia. However, a few studies have been reported on POLG1 mutations with the mitochondrial neuroga...
Diseases due to mutations of polymerase γ (POLG) usually present with progressive external ophthalmoplegia. However, a few studies have been reported on POLG1 mutations with the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype. All cases with POLG1 mutations mimicking MNGIE have never shown leukoencephalopathy on brain magnetic resonance imaging (MRI) or demyelinating polyneuropathy. We present a 26-year-old male with gait disturbance, recurrent bowel obstruction, peripheral neuropathy, ophthalmoplegia or ptosis, which represented MNGIE phenotype. Though he displayed demyelinating peripheral neuropathy or leukoencephalopathy on brain MRI, genetic analysis revealed heterozygous mutation in POLG1 gene. We report for the first time two newly characteristics in our patient with heterozygous POLG1 mutations with the MNGIE-like phenotype: leukoencephalopathy and demyelinating polyneuropathy.
- Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. [Journal Article]
- CACerebellum Ataxias 2018; 5:12
- CONCLUSIONS: Riboflavin transporter deficiency can be fatal if left untreated. The excellent outcome of this case illustrates the importance of identifying this potentially treatable neurologic condition. In this patient, clinical diagnosis was limited by an atypical presentation lacking several common features which was overcome through the use of genomic sequencing identifying the pathogenic mutation enabling correct diagnosis and subsequent treatment. Riboflavin transporter deficiency should be considered early in the diagnostic evaluation as a treatable form of ataxia in children, even if patients lack typical features.
- Peripheral levels of brain-derived neurotrophic factor and S100B in neuropsychiatric systemic lupus erythematous. [Journal Article]
- LLupus 2018; 27(13):2041-2049
- CONCLUSIONS: Our findings reinforce the use of serum S100B as a biomarker in SLE, particularly for NPSLE. Moreover, we found a strong association between serum S100B and peripheral neuropathy, indicating a specific utility for this biomarker in SLE that warrants clinical investigation.
- Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy. [Journal Article]
- ANArq Neuropsiquiatr 2018; 76(9):609-621
- Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years. In Brazil, li...
Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years. In Brazil, liver transplant and tafamidis are the only disease-modifying treatments available. This review consists of a consensus for the diagnosis, management and treatment for transthyretin familial amyloid polyneuropathy from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology. The first and last authors produced a draft summarizing the main views on the subject and emailed the text to 10 other specialists. Relevant literature on this subject was reviewed by each participant and used for the individual review of the whole text. Each participant was expected to review the text and send a feedback review by e-mail. Thereafter, the 12 panelists got together at the city of Fortaleza, discussed the controversial points, and reached a consensus for the final text.
- The Necessity of the Simple Tests for Diabetic Peripheral Neuropathy in Type 2 Diabetes Mellitus Patients without Neuropathic Symptoms in Clinical Practice. [Journal Article]
- DMDiabetes Metab J 2018; 42(5):442-446
- Early recognition and appropriate management of diabetic peripheral polyneuropathy (DPNP) is important. We evaluated the necessity of simple, non-invasive tests for DPNP detection in clinical practic...
Early recognition and appropriate management of diabetic peripheral polyneuropathy (DPNP) is important. We evaluated the necessity of simple, non-invasive tests for DPNP detection in clinical practice. We enrolled 136 randomly-chosen patients with type 2 diabetes mellitus and examined them with the 10-g Semmes-Weinstein monofilament examination, the 128-Hz tuning-fork, ankle-reflex, and pinprick tests; the Total Symptom Score and the 15-item self-administered questionnaire of the Michigan Neuropathy Screening Instrument. Among 136 patients, 48 had subjective neuropathic symptoms and 88 did not. The abnormal-response rates varied depending on the methods used according to the presence of subjective neuropathic symptoms (18.8% vs. 5.7%, P<0.05; 58.3% vs. 28.4%, P<0.005; 81.3% vs. 54.5%, P<0.005; 12.5% vs. 5.7%, P=0.195; 41.7% vs. 2.3%, P<0.001; and 77.1% vs. 9.1%, P<0.001; respectively). The largest abnormal response was derived by combining all methods. Moreover, these tests should be implemented more extensively in diabetic patients without neuropathic symptoms to detect DPNP early.
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- Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene. [Journal Article]
- JCJ Clin Neurosci 2018 Oct 22
- Familial amyloid polyneuropathy (FAP) is a rare autosomal dominant disorder characterized by amyloid accumulation in the peripheral nerves and other organs, including the heart, kidney, and eyes. So ...
Familial amyloid polyneuropathy (FAP) is a rare autosomal dominant disorder characterized by amyloid accumulation in the peripheral nerves and other organs, including the heart, kidney, and eyes. So far, no case with FAP from Mainland China was reported with a heterozygous missense mutation c.349G>T in the Transthyretin (TTR) gene. We report a 58-year-old man presenting with progressive peripheral neuropathy, autonomic failure and chronic paroxysmal dry cough. His father, three elder brothers and an elder sister suffered from the similar symptoms. Diagnostic whole-exome sequencing revealed a proven heterozygous missense mutation c.349G>T in exon 4 of the TTR gene, resulting in replacement of alanine with serine at position 117 of the mature protein (Ala117Ser). This is the first FAP family with a proven missense mutation c.349G>T in Mainland China, as well as the first FAP case with chronic paroxysmal dry cough.