Motor neuron disorders comprise a clinically and pathologically heterogeneous group of neurologic diseases characterized by progressive degeneration of motor neurons (including both sporadic and ...hereditary diseases), affecting the upper motor neurons, lower motor neurons, or both. Hereditary motor neuron disorders themselves represent a vast and heterogeneous group, with numerous clinical and genetic overlaps that can be a source of error. This narrative review aims at providing an overview of the main types of inherited motor neuron disorders by recounting the stages in their historical descriptions. For practical purposes, this review of the literature sets out their various clinical characteristics and updates the list of all the genes involved in the various forms of inherited motor neuron disorders, including spinal muscular atrophy, familial amyotrophic lateral sclerosis, hereditary spastic paraplegia, distal hereditary motor neuropathies/neuronopathies, Kennedy’s disease, riboflavin transporter deficiencies, VCPopathy and the neurogenic scapuloperoneal syndrome.
The ataxic neuropathies Mathis, Stéphane; Duval, Fanny; Soulages, Antoine ...
Journal of neurology,
10/2021, Letnik:
268, Številka:
10
Journal Article
Recenzirano
Ataxia is a frequent symptom in neurological cases with many causes. Sensory ataxia (due to involvement of the proprioceptive pathways) is observed in conditions affecting the central nervous system ...(spinal cord disorder) and the peripheral nervous system (peripheral neuropathy). The latter correspond to what we refer to as ‘ataxic neuropathies’. Ataxic neuropathies represent a wide and heterogeneous spectrum of disorders that may affect dorsal root nerves, dorsal root ganglia, nerve trunks, distal nerve endings or all of them together. The identification of a predominant sensory ataxia in a case of peripheral neuropathy should raise the possibility of some specific etiologies. We propose here to present the main causes of ataxic neuropathies, which are identified with diagnostic workflows that are dictated by the topography of the likely sites of lesions in the proprioceptive pathway together with the timing of their occurrence (acute, subacute, or chronic).
As the most frequent cause of acquired myopathy, toxic myopathies are characterised by clinicopathological features that vary depending on the mode of action of the drugs or toxins involved. Although ...a large number of substances can induce myotoxicity, the main culprits are statins, alcohol, and corticosteroids. A rigorous, well-organised diagnostic approach is necessary to obtain a rapid diagnosis. For early diagnosis and management, it is important for clinicians to be aware that most toxic myopathies are potentially reversible, and the goal of treatment should be to avoid serious muscle damage.
Animal envenomation in humans is usually accidental or for defensive purposes. Depending on the venom composition and administration, different reactions can be observed. After reporting the first ...case of acute polyradiculitis in a 57-year-old healthy male after red lionfish envenomation, we propose to analyze rare similar cases of acute neuritis after animal envenomation published in the medical literature. Including our case, we found 54 patients who developed acute peripheral neuropathy after having been stung or bitten by various animals, mainly hymenoptera (in half of the cases) but also jellyfishes, snakes, corals or nonhooked arthropods. We observed two distinct patterns of peripheral neuropathy: more than half of them were polyneuropathy while the others were focal neuropathy. The prognosis was favorable in most cases. The pathophysiological mechanism associated with these rare complications remain unknown, although some hypotheses may be proposed. A direct action of certain components of the venom, such as phospholipase-A2, could explain the focal forms of peripheral neuropathy trough toxic reactions and/or vasculitis processes. The more diffuse clinical situations could be due to an allergy-triggered immune-mediated reaction (possibly linked to a molecular mimicry mechanism between venom proteins and some myelin proteins of the peripheral nervous system), or to the action of some venom components on membrane ionic channels particularly at the node of Ranvier. Even if acute peripheral neuropathies are rare after envenomation, they may occur after envenomation from various animals, and their usually favorable prognoses should be known by neurologists.
Introduction
To describe the efficacy of subcutaneous immunoglobulin (SCIg) in patients with myasthenia gravis (MG).
Methods
This was a retrospective study conducted in the neuromuscular referral ...center of Bordeaux (between January 1, 2014 and March 31, 2021) with MG patients treated with SCIg. The main outcome was SCIg efficacy assessed by the before and after SCIg Myasthenia Gravis Foundation of America (MGFA) clinical classification, the duration of hospitalization and the number of days of orotracheal intubation (OTI).
Results
Sixteen patients were included in the study (11 females; 5 males). Nine patients were still treated with SCIg at the end of the study (March 31, 2021) and then underwent prospective follow-up. The average age of the patients was 56.1 (19–83) years. The median duration of MG at onset of SCIg was 37.4 months. Eight patients (50%) remained stable (4 in stage MGFA-IV and 4 in MGFA-III). Eight patients (50%) improved: 3 from MGFA-IV to MGFA-III, 1 from MGFA-IV to MGFA-II, 1 from MGFA-IV to MGFA-I, 2 from MGFA-III to MGFA-II and 1 from MGFA-III to MGFA-I (no patient worsened). The duration of disease progression did not appear to affect the response to SCIg therapy. The number of hospital days per month was significantly reduced after SCIg compared to before, and the number of days in intensive care unit and the number of days of OTI were also reduced. Only minor adverse effects were noted, and 80% of patients were in favor of continuing SCIg.
Conclusions
SCIg is a well-tolerated and useful treatment in MG, offering interesting perspectives in the management of MG patients. However, further large-scale prospective studies are needed to confirm these results.
Background
Anti-MAG polyneuropathy (anti-MAG PN) is an immune-mediated peripheral sensorimotor neuropathy characterized by distal demyelination and ataxia. However, this disorder, unlike other ...immune-mediated neuropathies, is difficult to treat in most cases.
Method
We retrospectively collected all anti-MAG PN patients followed in two hospitals for a period of 12 years to determine prognostic factors, especially those that indicated a good response to the various therapeutic strategies used.
Results
Forty-seven patients were included in the study; of these, 61% had a classical ‘distal demyelinating pattern’, 34.2% had a ‘CIDP-like pattern’, and the others had an ‘axonal pattern’. The most commonly used treatments were intravenous immunoglobulin (IVIg) as the first-line treatment and rituximab as the second- or third-line treatment. No prognostic factor was identified for IVIg, but electrophysiological parameters at onset were better in patients with a good response to rituximab than in non-responder patients, even though mild or high disability was observed in nearly half the patients at last examination.
Conclusion
Even though disability seems to progress in most cases despite the treatments used, our results suggest that an early electrophysiological reduction in sensory nerves could be considered a ‘red flag’ for the prompt initiation of rituximab to try to delay long-term disability.
Olfaction, one of our five main qualitative sensory abilities, is the action of smelling or the capacity to smell. Olfactory impairment can be a sign of a medical problem, from a benign nasal/sinus ...problem up to a potentially serious brain injury. However, although clinicians (neurologists or not) usually test the olfactory nerves in specific clinical situations (for example, when a neurodegenerative disorder is suspected), they may omit such tests in many other situations. With the recent COVID-19 pandemic, the resurgence of anosmia has reminded us of the importance of testing this sensorineural function. We retrace here the main historical steps and discoveries concerning olfaction and anosmia.
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•Olfaction is an important physiological function, its impairment contributing to reduce quality of life.•For centuries, numerous anatomical and physiological studies have contributed to a better understanding of olfaction.•Olfactory dysfunction may be due to various causes, neurological or not.•A link between olfaction and neurodegenerative disorders was established.•With the current pandemic (COVID-19), new interests in olfaction and new hypothesis emerged.
•Arthrogryposis and proprioceptive defects suggests a recessive PIEZO2 mutation.•Patients with arthrogryposis should be screened for PIEZO2 mutations.•Dominant PIEZO2 mutations are mostly missense ...whereas recessive cases are truncating.
PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. We report here two sisters presenting with these clinical and genetic features. They had a similar phenotype, with severe hypotonia and respiratory distress at birth, delayed acquisition of motor milestones and need of scoliosis surgery. Hypotonia and alteration of proprioception were at the forefront of clinical examination for both, along with areflexia, hyperlaxity, cutis laxa, and discrete facial dysmorphy. Electrophysiological studies, including electroneuromyography and sensory evoked potentials, showed a mild sensory axonopathy without any myopathic features, but revealed a peripheral proximal lemniscal defect. Creatine kinase, muscular MRI and biopsy were normal, as well as cerebral MRI and neurometabolic biological explorations. They had a moderate restrictive syndrome on respiratory function tests and cardiac function was normal. Molecular studies performed on a panel of genes involved in distal arthrogryposis disclosed a nonsense homozygous c.3241C > T (p.Arg1051*) mutation in the PIEZO2 gene, which was also present at the heterozygous state in their mother's DNA. This new PIEZO2 mutation was in accordance with the phenotype combining arthrogryposis, scoliosis, hyperlaxity and proprioceptive impairment.
Objective
X-linked myopathy with excessive autophagy (XMEA) linked to the
VMA21
gene leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. Current knowledge of this ...rare disease is limited. Our objective was to define the clinical, radiological, and natural history of XMEA.
Methods
We conducted a retrospective study collecting clinical, genetic, muscle imaging, and biopsy data of XMEA patients followed in France and reviewed the literature for additional cases.
Results
Eighteen males had genetically confirmed XMEA in France, carrying four different
VMA21
variants. Mean age at disease onset was 9.4 ± 9.9 (range 1–40) years. In 14/18 patients (77.8%), onset occurred during childhood (< 15 years); however in four patients, the disease started in adulthood. Patients had anterior and medial compartment thigh muscle weakness, distal contractures (56.3%), elevated CK levels (1287.9 ± 757.8 U/l) and autophagic vacuoles with sarcolemmal features on muscle histopathology. Muscle MRI (
n
= 10) showed a characteristic pattern of lower limb muscle involvement. In 11 patients, outcome measures were available for an average follow-up period of 10.6 ± 9.8 years and six of them show disease progression. Mean change of functional outcomes was 0.5 ± 1.2 points for Brooke and 2.2 ± 2.5 points for Vignos score, 7/16 patients (43.8%) needed a walking aid and 3/16 (18.8%) were wheelchair-bound (median age of 40 years old, range 39–48). The variant c.164-7 T > G was associated with a later onset of symptoms. Respiratory insufficiency was common (57.1%) but cardiac involvement rare (12.5%).
Interpretation
XMEA has variable age of onset, but a characteristic clinical, histopathological, and muscle imaging presentation, guiding the diagnosis. Although slowly, motor disability progresses with time, and relevant genotype–phenotype correlations will help design future clinical trials.
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