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Published in Terence R. Anthoney, Neuroanatomy and the Neurologic Exam, 2017
Several authors also include the movements accompanying akathisia (e. g., Fahn in Rowl, p. 39; VanA&R, p. 125; De), p. 413). Fahn also lists the synkinetic movements due to faulty regeneration of the facial nerve (p. 540) and the movements seen in restless legs syndrome (p. 39) and hyperekplexia (= excessive startle syndromes, p. 40–41); Adams and Victor (1985) and Fahn also include “spasms” (P. 839 and p. 540, respectively); and Adams and Victor and DeJong (1979) list oculogyric crises (p. 839 and p. 413, respectively), which can, however, be considered as a form of dystonia (e. g., Rowl, p. 539). Although Fahn gives a particularly detailed and helpful description of the various dyskinesias and how they are interrelated diagnostically (in Rowl, p. 38–41. 539–541), his terminology is occasionally troubling and at times clearly inconsistent. For example, as is the common practice, he excludes myokymia from the dyskinesias on p. 38; yet, on p. 540, he lists “myokymia” as a type of oral dyskinesia. Furthermore, in the latter place, he classifies myokymia as a type of myoclonus, a practice I've not encountered in any other text.Another example involves Fahn’s use of the term “tardive dystonia,” which he considers a variation of tardive dyskinesia (p. 541). So far, no problem, since he, as is the common practice, includes dystonia as a type of dyskinesia (p. 39). Elsewhere, however, he states that “Tardive dyskinesia consists of repetitive (stereotypic) rapid movements” (p. 539–540) and uses the construction “Tardive dyskinesia, tardive akathisia, and tardive dystonia” (p. 539)—as if “tardive dyskinesia” and “tardive dystonia” are two distinctly different conditions. All of this “makes sense,” for in the latter instances, he is referring to “classic” tardive dyskinesia only and is not including variations. The terminology, however, is semantically distressing, for it treats “tardive dyskinesia” as a subtype of itself and leads to inconsistencies. Given Fahn’s description of the conditions, it would seem preferable to retain the term “tardive dyskinesia” as the umbrella term, but to rename the classic subtype as “tardive chorea” or “tardive choreoathetosis.”DeJong (1979) also shows an apparent inconsistency. On p. 413, which is in his chapter entitled “Abnormal Movements” (= hyperkinesias, p. 402), he describes “Oral-Facial Dyskinesias”: in other words, he considers at least some dyskinesias to be a type of hyperkinesia. On p. 731, however, he uses the construction “Dyskinesias and hyperkinesias of various types,” as if they are two completely separate entities.
Genetics of human startle reactivity: A systematic review to acquire targets for an anxiety endophenotype
Published in The World Journal of Biological Psychiatry, 2021
Julia Tomasi, Clement C. Zai, Gwyneth Zai, James L. Kennedy, Arun K. Tiwari
A systematic literature search was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed and PsycINFO were searched to identify published studies written in English that reported genetic associations with startle reactivity from inception until February 2020. The following search terms were used: (startle) AND (genes OR genetics OR polymorphisms OR variants OR genotype OR snp) NOT (epilepsy) NOT (review[ptyp]). We filtered the search to humans and to journal articles to remove case studies. The data collection and extraction processes were performed and confirmed by JT and AKT. Studies were included if they met the following criteria: 1) Human study investigating associations between a genetic variant and startle reactivity; 2) examines startle at baseline or during fear/anxiety-provoking contexts; 3) no intervention is given prior to taking startle measures, and if there is, startle data during the placebo condition is reported; and 4) uses a sample of healthy participants or those with an anxiety-related disorder. We excluded studies that exclusively investigate prepulse inhibition (PPI) of startle, as this is a phenotype that is used to study sensorimotor gating. However, if the PPI study reported results for startle at baseline or to pulse-alone acoustic stimuli (without the presence of a prepulse), it was included. We also excluded any studies that investigate startle disease/hyperekplexia, which is a rare neurological disorder that involves exaggeration of the startle reflex.
Unusual gait disorders: a phenomenological approach and classification
Published in Expert Review of Neurotherapeutics, 2019
Vijayashankar Paramanandam, Karlo J. Lizarraga, Derrick Soh, Musleh Algarni, Mohammad Rohani, Alfonso Fasano
Hyperekplexia or startle syndrome consists of an exaggerated startle response and falls due to transient stiffness of the body following external stimuli, especially auditory. These patients have a wide-based spastic gait and when startled they fall forward ‘as stiff as a stick’. Non-hereditary hyperekplexia is a potentially treatable condition due to autoimmune brainstem encephalitides and/or antibodies against glycine channels. Startle syndromes have been described in Louisiana (Rajun Cajuns), Indonesia (Latah), India and Yemen. One of these startle syndromes carried the illustrative name of the ‘Jumping Frenchmen of Maine’ [78].
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2023
Arman Çakar, Emre Pekbilir, Serdar Ceylaner, Hacer Durmuş, Esra Battaloğlu, Umut Şahin, Yeşim Parman
His neurological examination revealed normal visual pursuit, vocalization without meaningful words. He had axial hypotonia, spastic tetraplegia without any signs of bulbar weakness, brisk tendon reflexes, and bilateral Babinski sign. He was able to sit with support. During the examination, he showed sudden jerky movements, aggravated by tactile stimulus interpreted as hyperekplexia. No signs of lower motor involvement were noted. Blood tests were normal except for an elevated creatine kinase (878 U/L). EMG, nerve conduction studies, cranial and spinal MRI were normal.