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Similar to Neurodegeneretaion with Brain Iron Accumulation (NBIA) and Normal Brain Iron Accumulation on MRI
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Neurodegeneretaion with Brain Iron Accumulation (NBIA) and Normal Brain Iron Accumulation on MRI
- 1. Neuromeet Dr. Tushar Patil Dept. of Radio Diagnosis Jehangir Hospital, Pune 16/09/2015
- 2. • 59 years / Male • Presented with vague symptoms • Generalised weakness • Bodyache • MRI brain was done
- 3. Axial T2
- 4. Axial T2 Axial T1
- 5. Axial T2 Axial T1
- 6. Axial SW
- 7. Differential Diagnosis • Normal Brain Aging • Normal Brain Iron Accumulation • Neurodegeneration with Brain Iron Accumulation (NBIA)
- 8. Normal Brain Iron Accumulation • Iron accumulates in the brain during the process of ageing, corresponds to intraneuronal ferritin. • May also occur in conjunction with other compounds, such as lipofuscin. • It may generate local oxidative stress by increasing the concentration of oxygen free radicals and may lead to lipid peroxidation and neurotoxicity.
- 9. Normal Brain Iron Accumulation • Iron accumulation in the brain prominently involves areas related to motor functions, such as • Basal ganglia, in particular the globus pallidus, as well as the striatum • Subthalamic nucleus • Substantia nigra • Dentate nucleus of the cerebellum • Also found in the cerebral white matter and cortex
- 12. Normal Brain Iron Accumulation • Iron accumulation in the brain is seen as a T2 hypointensity • In biologic iron-oxides, Fe+2 typically has fewer unpaired electrons than Fe+3 and is less effective in quenching T2-weighted signal intensity. • As paramagnetic, Fe+3 catalyzes the nuclear spin relaxation of neighboring water protons. • SWI can differentiate iron deposition from calcification – iron is associated with a paramagnetic phase shift, whereas calcification causes an opposite diagmagnetic phase shift.
- 14. Normal Brain Iron Accumulation
- 15. Normal Brain Iron Accumulation • Iron is normally deposited first within the globus pallidus, then the medial substantia nigra, then the red nucleus, and then the dentate nucleus of the cerebellum. • With age, iron also accumulates progressively within the putamen and then the caudate nucleus • Putamen - it usually starts posteriorly, progressing anteriorly with age
- 16. Stages of Iron Deposition on MRI • Initially hyperintense compared with white matter (stage I) • Isointense (stage II) • Hypointense compared with both gray and white matter (stage III)
- 18. Pathophysiology • Intracellular iron has an important role in the metabolism of neurotransmitters • Iron is taken up by capillary endothelial cells in the thalamus and extrapyramidal system via transferrin. • Iron is subsequently transported along neuronal axons to their sites of projection. • Iron continues to accumulate at sites of uptake. • Accumulate proximally due to interruptions of specific axonal projections by multiple causes.
- 19. Factors affecting signal • Greater concentration of paramagnetic substance • Increased signal/noise ratio (e.g., increasing the TR) • Prolonged TE • Longer interecho interval • Gradient reversal for signal acquisition • Higher-field-strength scanners
- 20. 2 years
- 21. 27 years
- 22. 80 years
- 23. 0.5 T
- 24. 1.5 T
- 25. 3 T
- 26. 7 T
- 28. Neurodegeneration with Brain Iron Accumulation (NBIA) • NBIA characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal movement disorder, intellectual deterioration, and a characteristic deposition of iron in the basal ganglia. • The diagnosis of NBIA is made on the basis of the combination of representative clinical features along with MR imaging evidence of iron accumulation.
- 29. Neurodegeneration with Brain Iron Accumulation (NBIA) • All of the NBIA disorders feature iron deposition in the globus pallidus but differ in the co- occurrence of other findings. • All are autosomal recessive except for neuroferritinopathy. • Disease onset is variable and may range from early childhood to old age.
- 30. Pantothenate Kinase Associated Neurodegeneration (PKAN) • Hallervorden Spatz syndrome • Caused by mutations in PANK2. • Begins in childhood • Profound dystonia, dysarthria, spasticity and pyramidal tract signs • Pigmentary retinopathy, leading to night blindness and visual field constriction
- 31. Pantothenate Kinase Associated Neurodegeneration (PKAN) • MR reveals Eye-of-the-tiger Sign. • Iron deposition in the GP, sometimes in SN. • Peripheral hypointensity - Preserved iron-laden neuropil, neurons, and astrocytes. • Central hyperintensity - Gliosis, increased water content, and neuronal loss with disintegration, vacuolization, and cavitation of the neuropil.
- 33. Neuroaxonal dystrophy (NAD) • Mutations in the gene encoding calcium- independent phospholipase A2 (PLA2G6) • Progressive spasticity, ataxia, and dystonia • Optic atrophy, peripheral neuropathy, and cognitive impairment • MRI reveals – Iron deposition in GP • Significant atrophy of both the cerebellar vermis and hemispheres • Confluent T2 hyperintensities in white matter
- 35. Neuroferritinopathy (NFT) • Only autosomal dominant form of NBIA • Caused by mutations in the FTL gene • Present in adolescence to older adulthood • Extrapyramidal features like parkinsonism, choreoathetosis, dystonia, tremor, and ataxia. • MRI reveals - Iron deposition in the putamen, GP and DN • T2 hyperintensity in the basal ganglia - Cystic cavitation
- 37. Aceruloplasminemia (ACP) • Loss of function mutations in the CP gene, encoding the protein ceruloplasmin • Present in mid-adulthood • Blepharospasm, chorea, craniofacial dyskinesias, ataxia, and retinal degeneration • MRI reveals iron deposition in CN, putamen, GP, thalamus, RN, and DN • Juxtaposed confluent white matter T2 hyperintensities • Cerebellar atrophy
- 39. Fatty Acid Hydroxylase associated Neurodegeneration (FAHN) • Caused by mutations in FA2H • Begins with focal dystonia and gait impairment • MRI reveals iron deposition in GP • Confluent subcortical and periventricular white matter T2 hyperintensities • Thinning of the corpus callosum • Cerebellar and brain stem atrophy
- 41. Kufor-Rakeb syndrome (KRS) • Caused by mutations in the ATP13A2 gene • Parkinsonism, anarthria, spastic paraparesis, and pyramidal tract signs • Facial-faucial finger mini-myoclonus • MRI reveals GP, CN and putamen • Generalized cerebral, cerebellar, and brain stem atrophy, along with progressive atrophy of the pyramids
- 43. Woodhouse-Sakati syndrome (WSS) • Mutations in c2orf37, encoding a nucleolar protein • progressive dystonia, with or without choreoathetosis • Endocrine dysfunction, alopecia, SNHL • MRI reveals GP • Widespread confluent and marked periventricular T2 white matter hyperintensities
- 45. Static Encephalopathy of childhood with NeuroDegeneration in Adulthood (SENDA) • Begins with early childhood intellectual impairment • In adulthood, affected patients develop severe dystonia-parkinsonism • MRI reveals iron deposition in the GP and SN • T1 hyperintensity of the SN with a central band of T1 hypointensity • Significant cerebral and milder cerebellar atrophy
- 48. Thank you
Editor's Notes
- A to F , Iron deposition in the basal ganglia. Perl ferricyanide stain of formalin-fixed gross anatomic images. A to C,Whole-brain axial sections at ages 3 days (A), 21 years (B), and 74 years (C). D to F, Coned-down coronal plane images through the striatum. Blue coloration signifies deposition of ferric iron within the stained tissue. The amount of ferric iron deposited and the geographic zone affected increase with age.
- A to C, Iron deposition. Magnified axial images after Perl staining. Same specimen as shown in Figure 11-3. The basal ganglia show intense iron stain within the caudate nucleus, putamen, and globus pallidus. The thalami show differential deposition of iron within the anterior nucleus (A), dorsomedial nucleus (M), and pulvinar (Pu) of the thalamus. B,Diencephalic-mesencephalic junction. Iron deposition is seen in the red nucleus (R), substantia nigra (SN), and the lateral (7) and medial (9) nuclei of the globi pallidi, with far less iron in the caudate nucleus (C) and putamen (P), and none in the claustrum (3), insular cortex (1), or the medial (M) and lateral (L) geniculate nuclei. H, hippocampus. C,The midbrain and hypothalamus show intense staining of the substantia nigra and less intense staining of the mammillary bodies.
- Axial T2-weighted images of a 69-year-old healthy subject showing hypointensity in the globus pallidus, posterior part of the putamina, substantia nigra, and in the red nucleus. Such hypointensity is attributable to iron accumulation
- Iron deposition with age. Diagram of the percentage of patients showing stage III iron deposition using 1.5-T spin-echo imaging (TR = 2000 to 2800 ms; TE 70 to 100 ms). In this study, areas were designated stage III if they showed signal intensity that was both less than gray matter and less than white matter. On MRI, stage III iron deposition appears first in the globi pallidi (GP), next in the substantia nigra (SN) and red nucleus (RN) (nearly simultaneously), and last within the dentate nucleus (DN) of the thalamus.
- Age-related signal intensity on long–repetition time/echo time sequences at 1.5 T of dentate nuclei (A, 1), red nuclei, and pars reticulata of the substantia nigra (B, 2 and 3, respectively), and globus pallidus and putamen (C, 4 and 5, respectively). At 2 years old, these gray matter nuclei are isointense to cortical gray matter and hyperintense to white matter.
- At age 27 years, the globus pallidus (4 and 5), red nucleus, pars reticulata of the substantia nigra (2 and 3, respectively), and, to a lesser extent, the dentate nuclei (1) are hypointense to cortical gray and to white matter. Note the greater degree of hypointensity of the globus pallidus in this 27-year-old imaged at 1.5 T than that of a 33-year-old patient at 0.5 T in Fig. 19.16.
- This healthy 80-year-old displays hypointensity of the putamen almost as pronounced as in the globus pallidus.
- A 33-year-old with normal hyperintensity in the posterior limb of the internal capsule imagined on a 0.5-T unit.
- At age 27 years, the globus pallidus (4 and 5), red nucleus, pars reticulata of the substantia nigra (2 and 3, respectively), and, to a lesser extent, the dentate nuclei (1) are hypointense to cortical gray and to white matter. Note the greater degree of hypointensity of the globus pallidus in this 27-year-old imaged at 1.5 T than that of a 33-year-old patient at 0.5 T in Fig. 19.16.
- Brain iron, T2 fast spin echo, normal young adult. A young healthy adult imaged at 7 T shows very prominent hypointense normal iron deposition in structures similarly depicted at 1.5 T (substantia nigra, red nuclei) but also in subthalamic nuclei and lateral geniculate bodies.
- PKAN. A and B, The eye-of-the-tiger sign begins with T2 hyperintensity within the globus pallidus. C and D, Iron subsequently accumulates with time.
- NAD. Iron deposition may be seen in the globus pallidus (A) and the substantia nigra (B) on T2* and T2 images. C, Confluent white matter hyperintensities may be seen on fluid-attenuated inversion recovery sequences as well. D, Global cerebellar atrophy is a frequent feature.
- NFT. A, Patchy hypointensity is typically seen within multiple deep gray nuclei, including the caudate, putamen, globus pallidus, and thalamus in symptomatic cases. B, Concurrent T2 hyperintensities (cavitation) may be seen within regions of hypointensity.
- ACP. A and B, More homogeneous iron deposition is seen within the basal ganglia, with juxtaposed confluent white matter hyperintensities on T2-weighted sequences.
- FAHN. Evidence of iron deposition in the globus pallidus (A) and, to a lesser extent, the substantia nigra (B) may be seen on T2-weighted images. C, Confluent white matter abnormalities may be apparent on T2/fluid-attenuated inversion recovery sequences.D, Mild cerebral atrophy may occur, along with significant pontocerebellar atrophy and thinning of the corpus callosum (A).
- KRS. Globus pallidus, caudate, and putamen hypointensity may be seen on T2-weighted images (AandB), in addition to generalized cerebral and cerebellar atrophy (AandC).
- WSS. Extensive confluent white matter T2 hyperintensity is typical of the disorder (AandC), while hypointensity of the globus pallidus on T2 sequences is an inconsistent feature (B).
- SENDA. Hypointensity of the globus pallidus (A) is overshadowed by that of the substantia nigra and cerebral peduncles (B) on T2-weighted imaging. C, T1 sequences demonstrate hyperintensity of the substantia nigra and cerebral peduncles with central linear hypointensity.D, Global cerebral atrophy is also a feature.