Cerebral and Cerebellar Atrophy: Causes & Reasons

Possible Causes for Cerebral and Cerebellar Atrophy

References NINDS: Cerebral Atrophy Information Page NINDS: Cerebellar Degeneration Information Page [healthguideinfo.com]

Therefore, atrophy of the cerebellar vermis may occur selectively with aging, without atrophy of the cerebral cortex, and without clinical manifestations. © 1981 by the American [neurology.org]

Momose et al. [14] showed a high degree of cerebral and cerebellar cortical atrophy in patients with endogenous Cushing syndrome. [rheum-care.com]

Autosomal Recessive Spastic Paraplegia Type 53

Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar [uniprot.org]

atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. [uniprot.org]

Autosomal Recessive Spastic Paraplegia Type 56

Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar [malacards.org]

atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. [malacards.org]

Aprosencephaly and Cerebellar Dysgenesis

Hypoplasia And Distinctivefacial Appearance Microcephaly, Autosomal Dominant Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy Midline Malformations [familydiagnosis.com]

Congenital adhesions of cerebral meninges Congenital cerebellar cortical atrophy Congenital cerebral cyst Congenital choroid plexus cyst Congenital malformation of corpus [emedcodes.com]

[…] meninges Congenital cerebellar cortical atrophy Congenital cerebral cyst Congenital cerebral ventriculomegaly Congenital choroid plexus cyst Congenital colloid cyst, third [icd9data.com]

Infantile Neuronal Ceroid Lipofuscinosis

However, the cerebellar atrophy was marked and out of proportion to the cerebral atrophy [Figure 2]. [annalsofian.org]

MRI shows cerebral and cerebellar atrophy, elevated glial marker, and high amount of lactate in grey and white matter.DNA testing has been used to identify NCLs like Infantile [symptoma.com]

Magnetic resonance imaging of the brain revealed age inappropriate diffuse cerebral and cerebellar atrophy. [annalsofian.org]

Congenital Non-Progressive Ataxia

Cerebral and cerebellar atrophy with white matter changes in some cases. 1964 – GILLESPIE FD first described in two siblings with aniridia, cerebellar ataxia, and mental retardation [en.wikipedia.org]

Cerebral and cerebellar atrophy with white matter changes on MRI scan were present in our second patient suggesting that patients with Gillespie syndrome may have more extensive [ncbi.nlm.nih.gov]

K. described more cases in a family with normal NCV and muscle biopsy. 1997 – Nelson J reported diffuse MRI abnormality in Cerebral and cerebellar atrophy with white matter [en.wikipedia.org]

Autosomal Recessive Spastic Paraplegia Type 46

Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. [malacards.org]

Brain imaging can show thinning of the corpus callosum, with mild cerebellar and cerebral atrophy. [disorders.eyes.arizona.edu]

Cerebrotendinous Xanthomatosis

Brain MRI features are strongly suggestive of diagnosis and include bilateral hyperintensity of the dentate nuclei, diffuse cerebral and cerebellar atrophy, and white matter [ncbi.nlm.nih.gov]

Computed tomographic scan of the head and brain magnetic resonance imaging (MRI) may show bilateral focal cerebellar lesions or diffuse brain and cerebellar atrophy. [ncbi.nlm.nih.gov]

[…] peduncles and in the pyramidal tracts; initial signs of cerebral atrophy may also present be with enlargement of both the insular and frontal spaces (13). [ncbi.nlm.nih.gov]

Progressive Myoclonic Epilepsy Type 7

Brain MRI showed moderate overall cerebral and cerebellar atrophy. [elsevier.es]

Brain MRI shows no relevant changes in initial and intermediate stages of the disease; final stages are characterised by cerebral and cerebellar atrophy. 8 In theory, doctors [elsevier.es]

[…] and cerebellar atrophy RBFOX1 Rolandic epilepsy RBFOX3 Rolandic epilepsy RELN Lissencephaly 2; Epilepsy, familial temporal lobe, 7 RNASEH2B Aicardi-Goutieres syndrome 2 ROGDI [asperbio.com]

Spinocerebellar Ataxia Type 12

To our knowledge, this is the first report on patients with SCA12 presenting with prominent cerebral white matter change besides cerebral and/or cerebellar atrophy. [ncbi.nlm.nih.gov]

Brain images of affected individuals revealed cerebral and cerebellar atrophy. [neurology.org]

RECENT FINDINGS: The first neuropathological examination of a brain from an SCA12 patient revealed both cerebellar and cerebral cortical atrophy, with a noted loss of Purkinje [ncbi.nlm.nih.gov]

Autosomal Dominant Spastic Paraplegia Type 42

Brain MRI shows cerebral and cerebellar atrophy and hypomyelination Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable) Tissue specificity [slc.bioparadigms.org]

Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. {ECO:0000269 PubMed:22243965}. [genecards.org]

Complicated forms are characterized by the presence of additional neurological and non-neurological symptoms, such as cerebral and cerebellar atrophy, optic atrophy, peripheral [ommbid.mhmedical.com]

Autosomal Recessive Primary Microcephaly Type 10

And Cerebellar Atrophy Microcephaly, Seizures, And Developmental Delay Microhydranencephaly Microphthalmia, Syndromic 6 Mitochondrial DNA Depletion Syndrome, Encephalomyopathic [familydiagnosis.com]

Growth delay Cerebral atrophy Delayed speech and language development Clonus Gliosis Myoclonus Death in infancy Polyhydramnios Cerebellar hypoplasia Neuronal loss in central [mendelian.co]

[…] hypoplasia Neuronal loss in central nervous system Congenital onset Cerebral atrophy Acidosis Progressive microcephaly Myopathy Hyperreflexia Optic atrophy Cerebral cortical [mendelian.co]

Amish Lethal Microcephaly

Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia [mendelian.co]

[…] and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. [genome.jp]

[…] and cerebellar atrophy AR 2 RBBP8 604124 Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 AR 8 SASS6 609321 autosomal recessive [centogene.com]

Neurodegeneration with Brain Iron Accumulation

MR imaging abnormalities outside the globus pallidus, including cerebral or cerebellar atrophy, were more common and more severe in mutation-negative patients. [ncbi.nlm.nih.gov]

[…] and milder cerebellar atrophy 34. [slideshare.net]

Mild cerebral and cerebellar atrophy may be seen. [ajnr.org]

Autosomal Recessive Spastic Paraplegia Type 54

Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar [uniprot.org]

atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. [uniprot.org]

Neuronal Ceroid Lipofuscinosis

Magnetic resonance imaging of the brain showed generalised cerebral and cerebellar atrophy. [ncbi.nlm.nih.gov]

Neither cerebral or cerebellar atrophy nor signal changes in the thalamus/basal ganglia were evident. [ncbi.nlm.nih.gov]

Magnetic resonance imaging of the brain showed generalized cerebral and cerebellar atrophy. [ncbi.nlm.nih.gov]

Neuronal Ceroid Lipofuscinosis Type 9

However, the cerebellar atrophy was marked and out of proportion to the cerebral atrophy [Figure 2]. [annalsofian.org]

All of them had cerebellar atrophy on neuroimaging, and in those who also had cerebral atrophy (two patients), cerebellar atrophy was more pronounced than the cerebral atrophy [neurologyindia.com]

[…] typical JNCL (CLN3) have cerebral atrophy at the early stage. [pediatricneurosciences.com]

Menkes Disease

During the course of the disease, however, rapidly developing cerebral and cerebellar atrophy and prominent white matter changes can occur 4. [radiopaedia.org]

Characteristic imaging findings are: bilateral subdural hygromas, cerebral and cerebellar atrophy, white matter changes and tortuous intracranial vessels on angiography. [ncbi.nlm.nih.gov]

[…] and cerebellar atrophy, elongated and tortuous intracranial vessels as well as bilateral epidural collection or bleed. [radiopaedia.org]

Progressive Myoclonic Epilepsy Type 3

Brain MRI showed moderate overall cerebral and cerebellar atrophy. [elsevier.es]

Brain MRI shows no relevant changes in initial and intermediate stages of the disease; final stages are characterised by cerebral and cerebellar atrophy. 8 In theory, doctors [elsevier.es]

[…] and cerebellar atrophy, T2-hyperintensity of the lobar white matter, thinning of the cerebral cortex, and thalamic T2-hypointensity. 8 The diagnostic testing strategy in [clinicalgate.com]

Kearns-Sayre Syndrome

MRI was interpreted as normal in two patients; cerebral and cerebellar atrophy was seen in the other two. [ncbi.nlm.nih.gov]

MRI Cerebral, cerebellar and brainstem atrophy are mainstay features of the disease 2. [radiopaedia.org]

Cerebral and cerebellar atrophy may be present. ECG will reveal conduction defects and echocardiography may demonstrate cardiomyopathy. [gponline.com]

Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

[…] cortical atrophy. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Seizures Gait ataxia Aggressive behavior Cerebral atrophy [mendelian.co]

Cerebellar atrophy Delayed myelination Cerebral atrophy Cerebellar hypoplasia Absent speech Optic atrophy Tremor Flexion contracture Leukodystrophy Gait disturbance Cognitive [mendelian.co]

[…] with late-onset spasticity Autosomal recessive cerebral atrophy Autosomal recessive complex spastic paraplegia Autosomal recessive congenital ichthyosis Autosomal recessive [sanfordresearch.org]

Neuronal Ceroid Lipofuscinosis Type 4B

However, the cerebellar atrophy was marked and out of proportion to the cerebral atrophy [Figure 2]. [annalsofian.org]

Pneumoencephalography revealed a marked cerebral and cerebellar atrophy. On ophthalmoscopy the optic discs appeared pale but the pigmentation of the fundus was normal. [healio.com]

Neuronal Ceroid Lipofuscinosis Type 7

CT scan and/or MRI were performed within one year of disease onset, and showed different degrees of cerebral and cerebellar atrophy in all but patient 8. [scielo.br]

atrophy Degeneration of cerebellum 0001272 Cerebral atrophy Degeneration of cerebrum 0002059 Delayed speech and language development Deficiency of speech development Delayed [rarediseases.info.nih.gov]

CT and/or MRI studies revealed varying degrees of cerebral and/or cerebellar atrophy in all patiens, within 3 years of onset of disease, most frequently within 8-10 months [scielo.br]

MERRF Syndrome

Markers serum and CSF lactic acidosis high CSF protein Neuroradiological features of MERRF can be seen on CT and/or MRI 1,2: cerebral atrophy cerebellar atrophy high T2 white [radiopaedia.org]

Markers serum and CSF lactic acidosis high CSF protein Neuroradiological features of MERRF can be seen on CT and/or MRI 1,2 : cerebral atrophy cerebellar atrophy high T2 white [radiopaedia.org]

Other imaging features seen in MERRF are cerebral atrophy, cerebellar atrophy with dentate nucleus calcification, and changes in the red nucleus as a result of progressive [ncbi.nlm.nih.gov]

Neuronal Ceroid Lipofuscinosis Type 8

CT scan and/or MRI were performed within one year of disease onset, and showed different degrees of cerebral and cerebellar atrophy in all but patient 8. [scielo.br]

[…] ataxia Cerebellar atrophy Cerebral atrophy Delayed speech and language development Developmental regression EEG abnormality Increased neuronal autofluorescent lipopigment [ncbi.nlm.nih.gov]

CT and/or MRI studies revealed varying degrees of cerebral and/or cerebellar atrophy in all patiens, within 3 years of onset of disease, most frequently within 8-10 months [scielo.br]

Adult Neuronal Ceroid Lipofuscinosis

Brain MRI showed marked generalized cerebral and cerebellar atrophy with no focal abnormalities (figure) (see also figure E-1 on the Neurology Web site at www.neurology.org [n.neurology.org]

However, the cerebellar atrophy was marked and out of proportion to the cerebral atrophy [Figure 2]. [annalsofian.org]

Grossly, mild symmetric cerebral and cerebellar atrophy was present. [onlinelibrary.wiley.com]

Infantile-Onset Autosomal Recessive Non-Progressive Cerebellar Ataxia

atrophy, cerebellar or cerebral leukodystrophy [ 17, 18 ] AVED TTPA 277460 Retinitis pigmentosa, head titubation, low serum vitamin E, teenage onset, spinal cord atrophy, [cerebellumandataxias.biomedcentral.com]

Coronal T1 image ( A ) shows cerebral and cerebellar atrophy. [ajnr.org]

[…] ataxia, Cayman type Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar ataxia-hypogonadism syndrome Cerebral arteriovenous [se-atlas.de]

Adult-Onset Autosomal Recessive Cerebellar Ataxia

Coronal T1 image ( A ) shows cerebral and cerebellar atrophy. [ajnr.org]

Laboratory findings Cerebellar atrophy varies from mild to severe and primarily involves the vermis. Elevated CSF glycine is a marker for this disorder. [emedicine.medscape.com]

Rhizomelic Chondrodysplasia Punctata Type 3

[…] and cerebellar atrophy with enlargement of the ventricles and CSF spaces Ureteropelvic junction obstruction G-tubes common due to aspiration and inadequate nutrition [1] [physio-pedia.com]

[…] and cerebellar atrophy with enlargement of ventricles Brain MRS – delayed myelination, decreased choline to creatinine ratios Death in infancy 14. [slideshare.net]

Brain anomalies have been reported on cranial MRI (white matter abnormalities, cerebral and cerebellar atrophy). [invitae.com]

Neuronal Ceroid Lipofuscinosis Type 10

CT scan and/or MRI were performed within one year of disease onset, and showed different degrees of cerebral and cerebellar atrophy in all but patient 8. [scielo.br]

CT and/or MRI studies revealed varying degrees of cerebral and/or cerebellar atrophy in all patiens, within 3 years of onset of disease, most frequently within 8-10 months [scielo.br]