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Periventricular nodular heterotopia 8(PVNH8)

MedGen UID:
1648287
Concept ID:
C4748602
Disease or Syndrome
Synonyms: PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8
 
Gene (location): ARF1 (1q42.13)
 
Monarch Initiative: MONDO:0032588
OMIM®: 618185

Definition

Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported (Ge et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (300049). [from OMIM]

Clinical features

From HPO
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebellar vermis atrophy
MedGen UID:
149271
Concept ID:
C0742028
Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
Periventricular nodular heterotopia
MedGen UID:
358387
Concept ID:
C1868720
Disease or Syndrome
Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Reduced cerebral white matter volume
MedGen UID:
1815057
Concept ID:
C5706151
Finding
An abnormally low volume of the white matter of the brain.

Professional guidelines

PubMed

Nune G, Arcot Desai S, Razavi B, Agostini MA, Bergey GK, Herekar AA, Hirsch LJ, Lee RW, Rutecki PA, Srinivasan S, Van Ness PC, Tcheng TK, Morrell MJ
Clin Neurophysiol 2019 Aug;130(8):1196-1207. Epub 2019 May 9 doi: 10.1016/j.clinph.2019.04.706. PMID: 31163364

Recent clinical studies

Etiology

Paliotti K, Dassi C, Berrahmoune S, Bejaran ML, Davila CEV, Martinez AB, Estupiñà MCF, Mancardi MM, Riva A, Giacomini T, Severino M, Romaniello R, Dubeau F, Srour M, Myers KA
J Neurol 2023 Aug;270(8):3934-3945. Epub 2023 Apr 29 doi: 10.1007/s00415-023-11724-z. PMID: 37119372
Kunpalin Y, Sichitiu J, Krishan P, Blaser S, Shannon P, Van Mieghem T, Shinar S
Ultrasound Obstet Gynecol 2023 Sep;62(3):383-390. doi: 10.1002/uog.26221. PMID: 37058393
Park KB, Chapman T, Aldinger KA, Mirzaa GM, Zeiger J, Beck A, Glass IA, Hevner RF, Jansen AC, Marshall DA, Oegema R, Parrini E, Saneto RP, Curry CJ, Hall JG, Guerrini R, Leventer RJ, Dobyns WB
Am J Med Genet A 2021 Sep;185(9):2690-2718. Epub 2020 Nov 18 doi: 10.1002/ajmg.a.61972. PMID: 33205886Free PMC Article
Ho CSH, Dubeau F, Séguin R, Ducharme S
Epilepsy Behav 2019 Mar;92:306-310. Epub 2019 Feb 5 doi: 10.1016/j.yebeh.2019.01.011. PMID: 30731297
Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA
AJNR Am J Neuroradiol 2009 Feb;30(2):257-63. Epub 2008 Nov 6 doi: 10.3174/ajnr.A1331. PMID: 18988682Free PMC Article

Diagnosis

Rijckmans E, Stouffs K, Jansen AC
Dev Med Child Neurol 2024 Aug;66(8):974-989. Epub 2024 Feb 23 doi: 10.1111/dmcn.15882. PMID: 38394064
Di Nora A, Costanza G, Pizzo F, Oliva CF, Di Mari A, Greco F, Pavone P
Acta Neurol Belg 2022 Feb;122(1):153-162. Epub 2021 Sep 1 doi: 10.1007/s13760-021-01774-3. PMID: 34471972Free PMC Article
Lampinen B, Zampeli A, Björkman-Burtscher IM, Szczepankiewicz F, Källén K, Compagno Strandberg M, Nilsson M
Epilepsia 2020 Aug;61(8):1701-1713. Epub 2020 Jul 15 doi: 10.1111/epi.16605. PMID: 32667688Free PMC Article
Ho CSH, Dubeau F, Séguin R, Ducharme S
Epilepsy Behav 2019 Mar;92:306-310. Epub 2019 Feb 5 doi: 10.1016/j.yebeh.2019.01.011. PMID: 30731297
Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):773-782. Epub 2018 Nov 1 doi: 10.1016/j.ejmg.2018.10.015. PMID: 30391507

Therapy

Nune G, Arcot Desai S, Razavi B, Agostini MA, Bergey GK, Herekar AA, Hirsch LJ, Lee RW, Rutecki PA, Srinivasan S, Van Ness PC, Tcheng TK, Morrell MJ
Clin Neurophysiol 2019 Aug;130(8):1196-1207. Epub 2019 May 9 doi: 10.1016/j.clinph.2019.04.706. PMID: 31163364
Raza HK, Chen H, Chansysouphanthong T, Zhang Z, Hua F, Ye X, Zhang W, Dong L, Zhang S, Wang X, Cui G
Neurol Sci 2019 Mar;40(3):489-494. Epub 2018 Dec 10 doi: 10.1007/s10072-018-3667-9. PMID: 30535564
Bourdillon P, Cucherat M, Isnard J, Ostrowsky-Coste K, Catenoix H, Guénot M, Rheims S
Epilepsia 2018 Dec;59(12):2296-2304. Epub 2018 Oct 21 doi: 10.1111/epi.14584. PMID: 30345535

Prognosis

Paliotti K, Dassi C, Berrahmoune S, Bejaran ML, Davila CEV, Martinez AB, Estupiñà MCF, Mancardi MM, Riva A, Giacomini T, Severino M, Romaniello R, Dubeau F, Srour M, Myers KA
J Neurol 2023 Aug;270(8):3934-3945. Epub 2023 Apr 29 doi: 10.1007/s00415-023-11724-z. PMID: 37119372
Ho CSH, Dubeau F, Séguin R, Ducharme S
Epilepsy Behav 2019 Mar;92:306-310. Epub 2019 Feb 5 doi: 10.1016/j.yebeh.2019.01.011. PMID: 30731297
Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA
AJNR Am J Neuroradiol 2009 Feb;30(2):257-63. Epub 2008 Nov 6 doi: 10.3174/ajnr.A1331. PMID: 18988682Free PMC Article
Aghakhani Y, Kinay D, Gotman J, Soualmi L, Andermann F, Olivier A, Dubeau F
Brain 2005 Mar;128(Pt 3):641-51. Epub 2005 Jan 19 doi: 10.1093/brain/awh388. PMID: 15659421
Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R
Neurology 2002 Mar 26;58(6):916-21. doi: 10.1212/wnl.58.6.916. PMID: 11914408

Clinical prediction guides

Paliotti K, Dassi C, Berrahmoune S, Bejaran ML, Davila CEV, Martinez AB, Estupiñà MCF, Mancardi MM, Riva A, Giacomini T, Severino M, Romaniello R, Dubeau F, Srour M, Myers KA
J Neurol 2023 Aug;270(8):3934-3945. Epub 2023 Apr 29 doi: 10.1007/s00415-023-11724-z. PMID: 37119372
Lu YT, Hsu CY, Liu YT, Chan CK, Chuang YC, Lin CH, Chang KP, Ho CJ, Ng CC, Lim KS, Tsai MH
Biomed J 2022 Jun;45(3):542-548. Epub 2021 May 20 doi: 10.1016/j.bj.2021.05.003. PMID: 35660364Free PMC Article
Di Nora A, Costanza G, Pizzo F, Oliva CF, Di Mari A, Greco F, Pavone P
Acta Neurol Belg 2022 Feb;122(1):153-162. Epub 2021 Sep 1 doi: 10.1007/s13760-021-01774-3. PMID: 34471972Free PMC Article
Ho CSH, Dubeau F, Séguin R, Ducharme S
Epilepsy Behav 2019 Mar;92:306-310. Epub 2019 Feb 5 doi: 10.1016/j.yebeh.2019.01.011. PMID: 30731297
Aghakhani Y, Kinay D, Gotman J, Soualmi L, Andermann F, Olivier A, Dubeau F
Brain 2005 Mar;128(Pt 3):641-51. Epub 2005 Jan 19 doi: 10.1093/brain/awh388. PMID: 15659421

Recent systematic reviews

Bourdillon P, Cucherat M, Isnard J, Ostrowsky-Coste K, Catenoix H, Guénot M, Rheims S
Epilepsia 2018 Dec;59(12):2296-2304. Epub 2018 Oct 21 doi: 10.1111/epi.14584. PMID: 30345535

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