U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal basal ganglia morphology

MedGen UID:
1619147
Concept ID:
C4520981
Anatomical Abnormality
Synonym: Abnormality of the basal ganglia
 
HPO: HP:0002134
Monarch Initiative: MONDO:0003996

Definition

Abnormality of the basal ganglia. [from HPO]

Conditions with this feature

Childhood apraxia of speech
MedGen UID:
152917
Concept ID:
C0750927
Mental or Behavioral Dysfunction
All FOXP2-related speech and language disorders, regardless of the underlying genetic alteration, have a core phenotype: childhood apraxia of speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, syllables, and words. All individuals with CAS – whether caused by an alteration of FOXP2 or of an unknown cause – have difficulties in automatically and accurately sequencing speech sounds into syllables, syllables into words, and words into sentences with the correct prosody. Additional findings in FOXP2-related speech and language disorders can include oral motor dyspraxia (difficulty planning or programming oral movements on command); dysarthria (a neuromuscular-based speech disorder that may affect nasal resonance, voice quality, prosody, and breath support for speech); moderate to severe receptive and expressive language disorder; and reading and spelling impairments. The underlying genetic cause of FOXP2-related speech and language disorders is either disruption of FOXP2 only (referred to in this GeneReview as FOXP2-only-related speech and language disorder) or large copy number variants (i.e., contiguous gene deletions), structural variants (i.e., chromosome translocation or inversion), or maternal uniparental disomy of chromosome 7 (UPD7) involving FOXP2 (here referred to as FOXP2-plus-related speech and language disorders). The genetic alteration determines if only speech and language problems are present (FOXP2-only-related speech and language disorder) or if more global developmental and behavioral issues are likely to be present as well (FOXP2-plus-related speech and language disorder). In FOXP2-only-related disorders, nonverbal (performance) IQ is typically more preserved compared to verbal IQ. Fine motor skills may be impaired (e.g., buttoning clothes, tying shoelaces), yet gross motor skills are normal. Autistic features and dysmorphic findings have been reported in a few affected individuals. In FOXP2-plus-related disorders oral motor deficits, global developmental delay, and autism spectrum disorder are common.
Biotin-responsive basal ganglia disease
MedGen UID:
375289
Concept ID:
C1843807
Disease or Syndrome
Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. The classic presentation of BTBGD occurs in childhood (age 3-10 years) and is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia which, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. An early-infantile Leigh-like syndrome / atypical infantile spasms presentation occurs in the first three months of life with poor feeding, vomiting, acute encephalopathy, and severe lactic acidosis. An adult-onset Wernicke-like encephalopathy presentation is characterized by acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia in the second decade of life. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation with biotin and thiamine.
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
MedGen UID:
413170
Concept ID:
C2749864
Disease or Syndrome
SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following features in infancy or childhood (median age of onset 2 months; range of onset birth to 6 years): psychomotor retardation, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, postnatal growth retardation, and feeding difficulties. Other less frequent features include distinctive facial features, contractures, kyphoscoliosis, gastroesophageal reflux, ptosis, choreoathetosis, ophthalmoplegia, and epilepsy (infantile spasms or generalized convulsions). The median survival is 20 years; approximately 30% of affected individuals succumb during childhood. Affected individuals may have hyperintensities in the basal ganglia, cerebral atrophy, and leukoencephalopathy on head MRI. Elevation of methylmalonic acid (MMA) in the urine and plasma is found in a vast majority of affected individuals, although at levels that are far below those typically seen in individuals with classic methylmalonic aciduria.
Mitochondrial DNA depletion syndrome, myopathic form
MedGen UID:
461100
Concept ID:
C3149750
Disease or Syndrome
TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individuals with a molecularly confirmed diagnosis have been reported. Three main subtypes of presentation have been described: Infantile-onset myopathy with neurologic involvement and rapid progression to early death. Affected individuals experience progressive muscle weakness leading to respiratory failure. Some individuals develop dysarthria, dysphagia, and/or hearing loss. Cognitive function is typically spared. Juvenile/childhood onset with generalized proximal weakness and survival to at least 13 years. Late-/adult-onset myopathy with facial and limb weakness and mtDNA deletions. Some affected individuals develop respiratory insufficiency, chronic progressive external ophthalmoplegia, dysphagia, and dysarthria.
Severe X-linked mitochondrial encephalomyopathy
MedGen UID:
463103
Concept ID:
C3151753
Disease or Syndrome
Combined oxidative phosphorylation deficiency-6 (COXPD6) is an X-linked recessive severe encephalomyopathic disorder with onset in utero or in infancy. Affected patients have hypotonia and severely impaired psychomotor development associated with variably decreased enzymatic activity of mitochondrial respiratory complexes in skeletal muscle or fibroblasts. More variable features may include sensorimotor neuropathy, seizures, severe muscle weakness, abnormal signals in the basal ganglia, hypertrophic cardiomyopathy, deafness, swallowing difficulties, and respiratory insufficiency. Death in childhood may occur (summary by Berger et al., 2011). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Diencephalic-mesencephalic junction dysplasia syndrome 2
MedGen UID:
1684846
Concept ID:
C5231440
Disease or Syndrome
Diencephalic-mesencephalic junction dysplasia syndrome-2 (DMJDS2) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and hypotonia apparent from infancy. Affected individuals develop severe progressive hyperkinetic movements, including spastic tetraplegia, dystonia, and bulbar dysphagia necessitating tube feeding. Patients are unable to walk and have severely impaired intellectual development with absent speech. Brain imaging shows a unique malformation reflecting abnormal embryonic development of the diencephalic-mesencephalic junction (DMJ), with agenesis of the basal ganglia and olfactory bulb, hypoplasia of the thalamus, and abnormal course of the corticospinal tracts (summary by De Mori et al., 2019). For a discussion of genetic heterogeneity of DMJDS, see DMJDS1 (251280).

Professional guidelines

PubMed

Joyce EM
CNS Neurosci Ther 2018 Jul;24(7):598-603. Epub 2018 May 15 doi: 10.1111/cns.12973. PMID: 29766653Free PMC Article
Nishijima H, Ueno T, Funamizu Y, Ueno S, Tomiyama M
Mov Disord 2018 Jul;33(6):877-888. Epub 2017 Sep 7 doi: 10.1002/mds.27172. PMID: 28880414Free PMC Article
Hegde AN, Mohan S, Lath N, Lim CC
Radiographics 2011 Jan-Feb;31(1):5-30. doi: 10.1148/rg.311105041. PMID: 21257930

Recent clinical studies

Etiology

Kumar S, Goyal L, Singh S
CNS Neurol Disord Drug Targets 2022;21(7):596-609. doi: 10.2174/1871527320666211006142100. PMID: 34620070
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Albin RL, Young AB, Penney JB
Trends Neurosci 1989 Oct;12(10):366-75. doi: 10.1016/0166-2236(89)90074-x. PMID: 2479133

Diagnosis

Kumar S, Goyal L, Singh S
CNS Neurol Disord Drug Targets 2022;21(7):596-609. doi: 10.2174/1871527320666211006142100. PMID: 34620070
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Zuccoli G, Yannes MP, Nardone R, Bailey A, Goldstein A
Neuroradiology 2015 Oct;57(10):973-89. Epub 2015 Jul 31 doi: 10.1007/s00234-015-1568-7. PMID: 26227169
Bekiesinska-Figatowska M, Mierzewska H, Jurkiewicz E
Eur J Radiol 2013 May;82(5):837-49. Epub 2013 Jan 10 doi: 10.1016/j.ejrad.2012.12.006. PMID: 23313708
Hegde AN, Mohan S, Lath N, Lim CC
Radiographics 2011 Jan-Feb;31(1):5-30. doi: 10.1148/rg.311105041. PMID: 21257930

Therapy

Yan S, Zhang G, Zhou Y, Tian T, Qin Y, Wu D, Lu J, Zhang S, Liu WV, Zhu W
Acad Radiol 2022 Mar;29 Suppl 3:S157-S165. Epub 2021 Sep 21 doi: 10.1016/j.acra.2021.08.011. PMID: 34556428
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Nishijima H, Ueno T, Funamizu Y, Ueno S, Tomiyama M
Mov Disord 2018 Jul;33(6):877-888. Epub 2017 Sep 7 doi: 10.1002/mds.27172. PMID: 28880414Free PMC Article
Roberts RC
Schizophr Res 2017 Sep;187:17-25. Epub 2017 Feb 9 doi: 10.1016/j.schres.2017.01.056. PMID: 28189530Free PMC Article
Obeso JA, Rodríguez-Oroz MC, Benitez-Temino B, Blesa FJ, Guridi J, Marin C, Rodriguez M
Mov Disord 2008;23 Suppl 3:S548-59. doi: 10.1002/mds.22062. PMID: 18781672

Prognosis

Bekiesinska-Figatowska M, Mierzewska H, Jurkiewicz E
Eur J Radiol 2013 May;82(5):837-49. Epub 2013 Jan 10 doi: 10.1016/j.ejrad.2012.12.006. PMID: 23313708
Rubin JE, McIntyre CC, Turner RS, Wichmann T
Eur J Neurosci 2012 Jul;36(2):2213-28. doi: 10.1111/j.1460-9568.2012.08108.x. PMID: 22805066Free PMC Article
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Ramenghi LA, Bassi L, Fumagalli M, Ometto A, Groppo M, De Carli A, Pisoni S, Dessimone F, Farè P, Mosca F
Minerva Pediatr 2010 Jun;62(3 Suppl 1):177-9. PMID: 21089737
Handley A, Medcalf P, Hellier K, Dutta D
Age Ageing 2009 May;38(3):260-6. Epub 2009 Mar 10 doi: 10.1093/ageing/afp020. PMID: 19276093

Clinical prediction guides

Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Bekiesinska-Figatowska M, Mierzewska H, Jurkiewicz E
Eur J Radiol 2013 May;82(5):837-49. Epub 2013 Jan 10 doi: 10.1016/j.ejrad.2012.12.006. PMID: 23313708
Rubin JE, McIntyre CC, Turner RS, Wichmann T
Eur J Neurosci 2012 Jul;36(2):2213-28. doi: 10.1111/j.1460-9568.2012.08108.x. PMID: 22805066Free PMC Article
Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606

Recent systematic reviews

MacIver CL, Tax CMW, Jones DK, Peall KJ
Eur J Neurol 2022 Nov;29(11):3418-3448. Epub 2022 Jul 22 doi: 10.1111/ene.15483. PMID: 35785410Free PMC Article
Kwee RM, Kwee TC
Eur J Radiol 2019 Feb;111:21-33. Epub 2018 Dec 13 doi: 10.1016/j.ejrad.2018.12.011. PMID: 30691661
Serafini G, Pompili M, Borgwardt S, Houenou J, Geoffroy PA, Jardri R, Girardi P, Amore M
Eur Child Adolesc Psychiatry 2014 Nov;23(11):1023-41. Epub 2014 Sep 12 doi: 10.1007/s00787-014-0614-z. PMID: 25212880
Kutlubaev MA, Duncan FH, Mead GE
Acta Neurol Scand 2012 Apr;125(4):219-27. Epub 2011 Nov 10 doi: 10.1111/j.1600-0404.2011.01618.x. PMID: 22070461
Arnone D, Cavanagh J, Gerber D, Lawrie SM, Ebmeier KP, McIntosh AM
Br J Psychiatry 2009 Sep;195(3):194-201. doi: 10.1192/bjp.bp.108.059717. PMID: 19721106

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...