Diseases of the Neuroacanthocytosis Group: A Systematic Review of Clinical Cases and Difficulties in their Diagnosis

Anna Spesivtseva, Natalya Gvarzhdets, Kazbek Autlev, Evgeny Kruchinin, Ivan Kuznetsov

Abstract


This systematic review examines diseases within the neuroacanthocytosis group, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's-like type 2 disease (HDL2), and other neurodegenerative disorders. The objective of this review is to provide a comprehensive overview of the clinical manifestations, diagnostic challenges, and current understanding of these rare hereditary diseases. Each nosological unit from this group is caused by various genetic mutations and has a different type of inheritance, pathogenetic changes, and clinical picture. Due to the rarity and relatively little knowledge of the pathogenetic foundations of these diseases, their diagnosis is a difficult task, and their treatment, as a rule, is only symptomatic

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Hermann A, Walker RH. Diagnosis and treatment of chorea syndromes. Current Neurology and Neuroscience Reports,(2015);15:1.

Lee JH, Cho WH, Cha SH, Kang DW. Globus pallidus interna deep brain stimulation for chorea-acanthocytosis. Journal of Korean Neurosurgical Society,(2015);57:143-146.

Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Current Opinion in Lipidology,(2014); 25(3):161-168.

Marchi G, Busti F, Lira Zidanes A, Castagna A, Girelli D. Aceruloplasminemia: A severe eurodegenerativedisorder deserving an early diagnosis. Frontiers in Neuroscience,(2019);13:325.

Vroegindeweij LHP, Boon AJW, Wilson JHP, Langendonk JG. Effects of iron chelation therapy on the clinical course of aceruloplasminemia: An analysis of aggregated case reports. Orphanet Journal of Rare Diseases,(2020);15(1): 105.

Levine I.M. An hereditary neurologic disease with acanthocytosis. Neurology, (1964); 14: 272.

Jankovic J, Killian JM, Spitz MC. Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine‐Critchley syndrome). Neurology, (1985); 35(11): 1679.

Roulis E, Hyland C, Flower R, Gassner C, Jung HH, Frey BM. Molecular basis and clinical overview of McLeod syndrome compared with other neuroacanthocytosis syndromes: A review. JAMA Neurology, (2018); 75(12): 1554-1562.

Laurencin C, Sebbag L, Jousserand G, Demontes M, Campean L, Thivolet-Bejui F, Lebre AS, Thobois S. Novel XK mutation in a McLeod patient diagnosed after heart transplant. Clinical Neurology and Neurosurgery,(2018); 168: 64-66.

Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A. A systematic review of the Huntington disease- like 2 phenotype. Journal of Huntington's Disease, (2017); 6(1): 37-46.

Paucar M, Pajak A, Freyer C, Bergendal Å, Döry M, Laffita-Mesa JM, Stranneheim H, Lagerstedt-Robinson K, Savitcheva I, Walker RH, Wedell A, Wredenberg A, Svenningsson P. Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. Neurology, (2018); 91(15): 710-712.

Kassubek R, Uttner I, Schönfeldt-Lecuona C, KassubekJ, Connemann BJ. Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings. Journal of the Neurological Sciences, (2017); 376: 151-152.

Walker RH, Danek A. Response to ‘Neuroacanthocytosis: A case with unusual clinical features and novel response to treatment’ by Wu et al. Journal of the Neurological Sciences,(2017); 373: 347.

Zhu H, Feng X-M, Zhao T, Liu J-Y. Neuroacanthocytosis with unusual clinical features: A case report. Medicine (Baltimore), (2019); 98(2): e14050.

Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C..Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Movement Disorders,(2016); 31(4): 436-457.

Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappatà S, De Michele G. Chorea-acanthocytosis without chorea: Expanding the clinical phenotype. Parkinsonism &Related Disorders,(2017); 41: 124-126.

Kim A, Chae HY, Park HS. Compound heterozygous VPS13A variants in a patient with Neuroacanthocytosis: Acase report and review of the literature. Laboratory Medicine,(2022), 53(4):433-435.

Peikert K, Danek A, Hermann A. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. European Journal of Medical Genetics,(2018); 61(11):699-705.

Wu CK, Santini VE, Dittus C, Saint Hilaire MH. Neuroacanthocytosis: A case with unusual clinical features & novel response to treatment. Journal of the Neurological Sciences,(2016); 370: 55-56.

Niemelä V, Salih A, Solea D, Lindvall B, Weinberg J, Miltenberger G, Granberg T, Tzovla A, Nordin L, Danfors T, Savitcheva I, Dahl N, Paucar M. Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations. Neurology. Genetics,(2020); 6:e426.

Weaver J, Sarva H, Barone D, Bobker S, Bushara K, Hiller A, Ishii M, Jankovic J, Lakhani S, Niotis K, Scharre DW, Tuite P, Stutz A, Westhoff CM, Walker RH. McLeod syndrome: Five new pedigrees with novel mutations. Parkinsonism and Related Disorders,(2019);64:293-299.

Frey BM, Gassner C, Jung HH. Neurodegeneration in the elderly - When the blood type matters: an overview of the McLeod syndrome with focus on hematological features. Transfusion and Apheresis Science,(2015);52(3):277-284.

Nishida Y, Nakamura M, Urata Y, Kasamo K, Hiwatashi H, Yokoyama I, Mizobuchi M, Sakurai K, Osaki Y, Morita Y, Watanabe M, Yoshida K, Yamane K, Miyakoshi N, Okiyama R, Ueda T, Wakasugi N, Saitoh Y, Sakamoto T, Takahashi Y, Shibano K, Tokuoka H, Hara A, Monma K, Ogata K, Kakuda K, Mochizuki H, Arai T, Araki M, Fujii T, Tsukita K, Sakamaki-Tsukita H, Sano A. Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis. Neurology. Genetics,(2019);5:e332.

Lim MM, Sarva H, Hiller A, Feitell S, Oates P, Barone D, Walker RH. Sleep disorders in McLeod syndrome: A case series. Parkinsonism and Related Disorders,(2022);102:86-88.

Haas C, Levin D, Milone M, Vardiman-Ditmanson J, Mathers C. McLeod syndrome in a commercial airline pilot. Aerospace Medicine and Human Performance,(2021);92(9):734-737.

Xia S, Yu X, Song F, Sun B, Wang Y. McLeod syndrome with a novel XK frameshift mutation: A case report. Medicine (Baltimore),(2022);101(10):e28996.

Komiya H, Takasu M, Hashiguchi S, Uematsu E, Fukai R, Tanaka K, Tada M, Joki H, Takahashi T, Koyano S, Doi H, Takeuchi H, Tanaka F. A case of McLeod syndrome with a novel XK missense mutation. Movement Disorders Clinical Practice, (2018);5:333-336.

Xu L, Hua P, Liu W, Li Z, Lu J, Liu H. A McLeod syndrome family and new novel XK gene mutation. Chinese Journal of Neurology, (2019);52:14-18.

Marsan E, Huang EJ. Endosomal recycling defects link Huntington's disease with McLeod syndrome. The Journal of Cell Biology,(2022);221(10):e202208164.

DoyanYuI, Kicherova OA, Reikhert LI, Graf LV, Ponomareva EA. Syndromes of postural stability and gait disorders in patients with discirculatory encephalopathy: clinical forms and features of patghohenesis. Medical Science and Education of Ural,(2021); 2(106): 141-143.

Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J. Clinical variability of neuroacanthocytosis syndromes – a series of six patients with long follow up.Clinical Neurology and Neurosurgery, 2016; 147: 78-83.

Quick S, Heidrich FM, Winkler MV, Winkler AH, Ibrahim K, Linke A, Speiser U, Grabmaier U, Buhmann C, Marxreiter F, Saft C, Danek A, Hermann A, Peikert K. Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome. Parkinsonism &Related Disorders,(2021);88:90-95.

Walker RH, Miranda M, Jung HH, Danek A. Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome. Parkinsonism &Related Disorders,(2019);60:158-161.

Park JS, Neiman AM. XK is a partner for VPS13A: A molecular link between Chorea-Acanthocytosis and McLeod Syndrome. Molecular Biology of the Cell,(2020);31(22):2425-2436.

Walker RH. Untangling the thorns: Advances in the Neuroacanthocytosis syndromes. Journal of Movement Disorders,(2015);8(2): 41-54. doi: 10.14802/jmd.15009

He W, Li C, Dong H, Shao L, Yin B, Li D, Ye L, Hu P, Zhang C, Yi W. Pallidus stimulation for chorea-acanthocytosis: A systematic review and meta-analysis of individual data. Journal of Movement Disorders,(2022);15(3):197-205.

Torres V, Painous C, Santacruz P, Sánchez A, Sanz C, Grau-Junyent JM, Muñoz E. Very long time persistent hyperckemia as the first manifestation of McLeod syndrome: A case report. MovementDisordersClinicalPractice,(2022);9(6):821-824.

Yu Z., Fu Y., Fan D.S. A case report of O'Sullivan-McLeod syndrome. ZhonghuaNeiKe Za Zhi,(2021);60(11):997-998.

Murakami T, Abe D, Matsumoto H, Tokimura R, Abe M, Tiksnadi A, Kobayashi S, Kaneko C, Urata Y, Nakamura M, Sano A, Ugawa Y. A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs. BMC Neurology,(2019);19(1):301.

Neeraja K, Prasad S, Holla VV, Kamble N, Yadav R, Pal PK. The spectrum of movement disorders in Neuroacanthocytosissyndromes: A video

series. MovementDisordersClinicalPractice,(2021);8(6):983-986.

Srikanth P., Al-Louzi O.A., Bowley M.P., Videnovic A. A novel XK gene mutation causative of McLeod syndrome. MovementDisordersClinicalPractice,(2020);7(3):340-342.

Yu Y, Lu Y, Wang F, Lu Y, Xie B, Meng X, Tang Y. Acanthocytes identified in Huntington's disease. Frontiers in Neuroscience,(2022);16:913401.

Walker RH, Danek A. "Neuroacanthocytosis" – Overdue for a taxonomic update. Tremor and Other Hyperkinetic Movements,(2021); 11(1): 1.

Lebedeva DI, Elfimova IV, Bychenko SM, Skorikova VG, Kravchenko AV, Postnikova TV, Kustova EI, Ponomareva EA, IsaevaZhA. Risk factors of hemorrhagic transformation after thrombolysis in ischemic stroke patients in tyumen district. Medical Science and education of Ural,(2020); 3(103): 102-106.

Tabrizi SJ, Flower MD, Ross CA, Wild EJ. Huntington disease: New insights into molecular pathogenesis and therapeutic opportunities. Nature Reviews. Neurology,(2020);16(10):529-546.

Danek A, Mente, Karp B, Ramamurthy A, Scharre D. "Levine syndrome": Neither Chorea-acanthocytosis nor McLeod syndrome? Tremor and Other Hyperkinetic Movements; (2018); 8:14-15.

Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A. A systematic review of the Huntington Disease-Like 2 Phenotype. Journal of Huntington’s Disease; (2017); 6(1): 37–46.

Ferreira-Correia A, Anderson DG, Cockcroft K, Krause A. A comparison between the neurocognitive profile of Huntington Disease-Like 2 and Huntington Disease: Exploring the presence of double dissociations. Applied Neuropsychology:Adult; (2022); 29(2): 223–233.

Rudnicki DD, Pletnikova O, Vonsattel JPG, Ross CA, Margolis RL. A comparison of Huntington disease and Huntington disease-like 2 neuropathology. Journal of Neuropathology and Experimental Neurology;(2008); 67(4): 366–374.

Huang SJ, Amendola LM, SternenDL. Variation among DNA banking consent forms: points for clinicians to bank on. Journal of community genetics; (2022); 13(4): 389–397.




DOI: http://dx.doi.org/10.62940/als.v10i3.1845

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