Comment on “Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?”

We read with great interest the recent article entitled “Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: evidence of symptomatic enzyme deficiency?” written by Bally et al. [1] and would like to comment on this interesting study. The authors found a pathogenic variant (c.296del [p.Leu99Argfs*15]) and a variant of uncertain significance (c.1169C>T [p.Ser390Leu]) in the tyrosine hydroxylase gene (TH), which were confirmed to be present on the same allele, in an adult-onset patient with dopa-responsive dystonia (DRD).
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research

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Source: Journal of Pain Research - Category: Anesthesiology Tags: Journal of Pain Research Source Type: research
Sensorineural hearing loss is a common clinical finding in neurodegenerative and neurometabolic disorders, despite rarer than in vascular, traumatic, infective and neoplastic causes [1]. Although frequently asymptomatic even in moderate to late stages of some diseases, deafness generally represents an important diagnostic tip during clinical evaluation of differential diagnosis, especially in some restricted contexts, such as the movement disorders. The most common etiologies of sensorineural deafness associated with movement disorders include autosomal recessive diseases, however autosomal dominant inheritance may also be...
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
AbstractObjectiveTo investigate the efficacy of bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) in patients with Meige syndrome.Materials and MethodsFifteen consecutive patients who underwent STN ‐DBS at the Peking University People's Hospital between September 2017 and June 2018 were included in this study. The Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS) movement score and the BFMDRS disability score were obtained prior to surgery, and at specific time points after surgery. Pati ents' sleep status was also assessed before and after surgery.ResultsThe BFMDRS movement scores decreased fr...
Source: Neuromodulation: Technology at the Neural Interface - Category: Biotechnology Authors: Tags: Clinical Research Source Type: research
Intrathecal baclofen (ITB) is a well-recognised treatment option in the management of generalised spasticity and dystonia. Typically it is considered in children who have failed to respond to, or have not tolerated, appropriate enteral medications. Placement of a pump would be contraindicated in children who could not accommodate a pump due to size, or those who have a local or systemic infection. There are a number of relative contraindications which must be considered. An intrathecal baclofen test dose is usually advised and is particularly useful in screening for hypersensitivity.
Source: Paediatrics and Child Health - Category: Pediatrics Authors: Tags: Symposium: Cerebral palsy Source Type: research
Conclusion: Our results do not provide evidence for a role of MRI of the cervical spine in the routine work-up of patients with cervical dystonia in the absence of specific clinical signs or symptoms.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Mutations inTUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N). We have developed a novel knock-in mouse model harboring heterozygous (Tubb4aD249N/+) and the homozygous (Tubb4aD249N/D249N) mutation that recapitulate the progressive motor dysfunction with tremor, dystonia and ataxia seen in H-ABC.Tubb4aD249N/D249N mice have myelination deficits along with dramatic decrease in mature oligodendrocytes and their progenitor cells. Additionally, a signific...
Source: eLife - Category: Biomedical Science Tags: Neuroscience Source Type: research
Botulinum toxin has been considered as the treatment of choice for patients with cervical dystonia (CD) [1]. Although its effect is usually helpful, botulinum toxin can cause serious complications [1]. Thus, development of a new treatment strategy for patients with CD is required to overcome the limitations of the current treatment. Based on pathophysiology of dystonia including loss of inhibition and aberrant plasticity within the brain [2], non-invasive brain stimulation (NIBS) techniques such as repetitive transcranial magnetic stimulation (rTMS) have been applied to patients with CD to normalize disrupted function in c...
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
Abstract Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
ConclusionsOur paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.
Source: Neurological Sciences - Category: Neurology Source Type: research
ABSTRACT Loss-of-function mutations in dystonin (DST) can cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) or epidermolysis bullosa simplex (EBS). Recently, DST-related diseases were recognized to be more complex than previously thought because a patient exhibited both neurological and skin manifestations, whereas others display only one or the other. A single DST locus produces at least three major DST isoforms: DST-a (neuronal isoform), DST-b (muscular isoform) and DST-e (epithelial isoform). Dystonia musculorum (dt) mice, which have mutations in Dst, were originally identified as spontaneous mutants di...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Neuromuscular RESEARCH ARTICLE Source Type: research
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