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Neurodegeneration with brain iron accumulation 7(NBIA7)

MedGen UID:
1647672
Concept ID:
C4693583
Disease or Syndrome
Synonyms: NBIA7; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
 
Gene (location): REPS1 (6q24.1)
 
Monarch Initiative: MONDO:0054763
OMIM®: 617916

Definition

Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). [from OMIM]

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Leukodystrophy
MedGen UID:
6070
Concept ID:
C0023520
Disease or Syndrome
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
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.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Lower limb spasticity
MedGen UID:
220865
Concept ID:
C1271100
Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Loss of ambulation
MedGen UID:
332305
Concept ID:
C1836843
Finding
Inability to walk in a person who previous had the ability to walk.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Spinocerebellar tract degeneration
MedGen UID:
401075
Concept ID:
C1866751
Disease or Syndrome
Brisk reflexes
MedGen UID:
382164
Concept ID:
C2673700
Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Iron accumulation in brain
MedGen UID:
866729
Concept ID:
C4021076
Finding
An abnormal build up of iron (Fe) in brain tissue.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Increased circulating very long-chain fatty acid concentration
MedGen UID:
1788690
Concept ID:
C5539740
Finding
Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Recent clinical studies

Etiology

Si L, Wang Z, Li XY, Song Y, Yao T, Xu E, Wang X, Wang C
Neurogenetics 2023 Oct;24(4):231-241. Epub 2023 Jul 15 doi: 10.1007/s10048-023-00725-9. PMID: 37453004
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders
Mov Disord 2022 May;37(5):905-935. Epub 2022 Apr 28 doi: 10.1002/mds.28982. PMID: 35481685
Cozzi A, Santambrogio P, Ripamonti M, Rovida E, Levi S
Cell Mol Life Sci 2021 Apr;78(7):3355-3367. Epub 2021 Jan 13 doi: 10.1007/s00018-020-03747-w. PMID: 33439270
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG
Arq Neuropsiquiatr 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. PMID: 27487380
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ
Nat Genet 2006 Jul;38(7):752-4. Epub 2006 Jun 18 doi: 10.1038/ng1826. PMID: 16783378Free PMC Article

Diagnosis

Si L, Wang Z, Li XY, Song Y, Yao T, Xu E, Wang X, Wang C
Neurogenetics 2023 Oct;24(4):231-241. Epub 2023 Jul 15 doi: 10.1007/s10048-023-00725-9. PMID: 37453004
Cozzi A, Santambrogio P, Ripamonti M, Rovida E, Levi S
Cell Mol Life Sci 2021 Apr;78(7):3355-3367. Epub 2021 Jan 13 doi: 10.1007/s00018-020-03747-w. PMID: 33439270
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG
Arq Neuropsiquiatr 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. PMID: 27487380
Schneider SA, Bhatia KP
Int Rev Neurobiol 2013;110:xv-xviii. doi: 10.1016/B978-0-12-410502-7.09988-9. PMID: 24209446
Schneider SA, Bhatia KP
Curr Neurol Neurosci Rep 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0. PMID: 20694531

Therapy

Das N, Raymick J, Sarkar S
Metab Brain Dis 2021 Oct;36(7):1627-1639. Epub 2021 Jul 27 doi: 10.1007/s11011-021-00765-w. PMID: 34313926
Bailey DK, Clark W, Kosman DJ
PLoS One 2021;16(7):e0254794. Epub 2021 Jul 26 doi: 10.1371/journal.pone.0254794. PMID: 34310628Free PMC Article
Ayton S, Portbury S, Kalinowski P, Agarwal P, Diouf I, Schneider JA, Morris MC, Bush AI
Alzheimers Dement 2021 Jul;17(7):1244-1256. Epub 2021 Jan 25 doi: 10.1002/alz.12282. PMID: 33491917Free PMC Article
Schneider SA, Bhatia KP
Int Rev Neurobiol 2013;110:xv-xviii. doi: 10.1016/B978-0-12-410502-7.09988-9. PMID: 24209446
Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, Revilla FJ, Santens P, Schnitzler A, Tisch S, Valldeoriola F, Vesper J, Volkmann J, Woitalla D, Peker S
Brain 2010 Mar;133(Pt 3):701-12. Epub 2010 Mar 5 doi: 10.1093/brain/awq022. PMID: 20207700Free PMC Article

Prognosis

Amini E, Rohani M, Lang AE, Azad Z, Habibi SAH, Alavi A, Shahidi G, Emamikhah M, Chitsaz A
Mov Disord Clin Pract 2024 Jan;11(1):53-62. Epub 2023 Dec 1 doi: 10.1002/mdc3.13933. PMID: 38291840Free PMC Article
Northall A, Doehler J, Weber M, Tellez I, Petri S, Prudlo J, Vielhaber S, Schreiber S, Kuehn E
Brain 2024 Mar 1;147(3):1087-1099. doi: 10.1093/brain/awad351. PMID: 37815224Free PMC Article
Kim HW, Lee S, Yang JH, Moon Y, Lee J, Moon WJ
Korean J Radiol 2023 Nov;24(11):1131-1141. doi: 10.3348/kjr.2023.0490. PMID: 37899522Free PMC Article
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R
Brain 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102. PMID: 31135052Free PMC Article
Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, Revilla FJ, Santens P, Schnitzler A, Tisch S, Valldeoriola F, Vesper J, Volkmann J, Woitalla D, Peker S
Brain 2010 Mar;133(Pt 3):701-12. Epub 2010 Mar 5 doi: 10.1093/brain/awq022. PMID: 20207700Free PMC Article

Clinical prediction guides

Kim HW, Lee S, Yang JH, Moon Y, Lee J, Moon WJ
Korean J Radiol 2023 Nov;24(11):1131-1141. doi: 10.3348/kjr.2023.0490. PMID: 37899522Free PMC Article
Marchi NA, Pizzarotti B, Solelhac G, Berger M, Haba-Rubio J, Preisig M, Vollenweider P, Marques-Vidal P, Lutti A, Kherif F, Heinzer R, Draganski B
J Sleep Res 2022 Dec;31(6):e13698. Epub 2022 Jul 13 doi: 10.1111/jsr.13698. PMID: 35830960Free PMC Article
Dangel T, Kmieć T, Januszaniec A, Ważny B
Neurol Sci 2020 Mar;41(3):653-660. Epub 2019 Nov 22 doi: 10.1007/s10072-019-04099-5. PMID: 31758347Free PMC Article
Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Burns C, Swett LL, Revicki DA, Bender RH, Lenderking WR
Orphanet J Rare Dis 2019 Jul 12;14(1):174. doi: 10.1186/s13023-019-1142-1. PMID: 31300018Free PMC Article
Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, Revilla FJ, Santens P, Schnitzler A, Tisch S, Valldeoriola F, Vesper J, Volkmann J, Woitalla D, Peker S
Brain 2010 Mar;133(Pt 3):701-12. Epub 2010 Mar 5 doi: 10.1093/brain/awq022. PMID: 20207700Free PMC Article

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