SavedAdd your journal

Journals / Annals of Medical Sciences / 2001 / Cilt: 10 - Sayı: 2

Neuroacanthocytosis presenting with epileptic seizures

Meltem DEMİRKIRAN
Yakup SARICA
Birol GÜVENÇ
Hacer BOZDEMİR
Pages
82–84
Publication Date
2022-10-10
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this study, we present a case with neuroacanthocytosis initiating with adult-onset epileptic seizures.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Neuroacanthocytosis is a rare degenerative disorder characterized by neurologic manifestations consisting mainly of extrapyramidal syndrome, cognitive decline and peripheral neuropathy in association with acanthocytosis and elevated serum creatinine-phosphokinase.
📊
Key Findings & Data:Neuroacanthocytosis is a rare degenerative disorder characterized by neurologic manifestations consisting mainly of extrapyramidal syndrome, cognitive decline and peripheral neuropathy in association with acanthocytosis and elevated serum creatinine-phosphokinase.
💡
Conclusion & Impact:In this study, we present a case with neuroacanthocytosis initiating with adult-onset epileptic seizures.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Neuroacanthocytosis is a rare degenerative disorder characterized by neurologic manifestations consisting mainly of extrapyramidal syndrome, cognitive decline and peripheral neuropathy in association with acanthocytosis and elevated serum creatinine-phosphokinase. In this study, we present a case with neuroacanthocytosis initiating with adult-onset epileptic seizures.

🔖

Cite This Article

DEMİRKIRAN, M., SARICA, Y., GÜVENÇ, B., BOZDEMİR, H. (2022). Neuroacanthocytosis presenting with epileptic seizures. Annals of Medical Sciences, Cilt: 10 - Sayı: 2, 82–84. https://ajindex.com/articles/447464

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (16)

  1. Hardie RJ, Pullon HWH, Harding AE, et al. Neuroacanthocytosis. A clinical, hematological and pathological study of cases. Brain 1991;114:13-49
  2. Oertel WH, Möller JC. Other degenerative syndromes that cause parkinsonism. In: Watts RL, Koller WC Eds. Movement Disorders Neurologic Principles and Practice. 1st ed. New Yorl, NY:McGraw Hill; 1997:337-338
  3. Bird TD, Cederbaum S, Valpey RW, Stahl WL. Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study. Ann Neurol 1978;3:253-258
  4. Sakai T, Mawatari S, Iwashita H, Goto I, Kuroiwa Y. Choreoacanthocytosis. Clues to clinical diagnosis. Arch Neurol 1981;38:335-338
  5. Gross KB, Skrivanek JA, Carlson KC, Kaufman DM. Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations. Arch Neurol 1985;42:753-756
  6. Levine IM, Estes JW, Looney JM. Hereditary neurological disease with acanthocytosis: a new syndrome. Arch Neurol 1968;19:403-409
  7. Vance JM, Pericak-Vance MA, Bowman MH, Payne CS, Fredane L, Siddique T, Roses AD, Massey EW. Choreaacanthocytosis: a report of three new families and implications for genetic counselling. Am J Med Genet 1987;28:403-410
  8. Critchley EMR, Clark DB, Wikler A. Acanthocytosis and neurological disorder without abetalipoproteinemia. Arch Neurol 1968;18:134-143
  9. Critchley EMR, Clark DB, Wikler A. An adult form of acanthocytosis. Trans Am Neurol Assoc 1967;92:132-37
  10. Rinne JO, Daniel SE, Scaravilli F, Pires M, Harding AE, Marsden CD. The neuropathological features of neuroacanthocytosis. Mov Disord 1994;9:297-304
  11. Spitz MC, Jankovic J, Killian JM. Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome. Neurology 1985;35:366-370
  12. Kartsounis LD, Hardie RJ. The pattern of cognitive im- pairments in neuroacanthocytosis: a frontosubcortical dementia. Arch Neurol 1996;53:77-80
  13. Jankovic J, Killian JM, Spitz MC. Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome). (Letter). Neurology 1985;35:1679
  14. Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration (HARP syndrome). Neurology 1992;42:194-198
  15. Sorrentino G, De Renzo A, Miniello S, Nori O, Bonavita V. Late appearence of acanthocytosis during the course of chorea-acanthocytosis. J Neurol Sci 1999;163:175- 178
  16. Spencer SE, Walker FA, Moor