Cortical Basal Ganglionic Degeneration Workup
- Author: A M Barrett, MD; Chief Editor: Selim R Benbadis, MD more...
See the list below:
- Ceruloplasmin - Also performed in patients with atypical parkinsonism or Parkinsonlike syndrome
- Workup for reversible systemic causes of cognitive deficits
- B-12 level
- Rapid plasma reagin (RPR) or Venereal Disease Research Laboratory (VDRL) test, which may be falsely negative in patients older than 65 years, to rule out neurosyphilis
- Thyroid function tests, and consider thyroid autoantibody screening
- CBC with differential and platelets
- If appropriate or other evidence of systemic disease - Rheumatologic workup, including antinuclear antibody (ANA), erythrocyte sedimentation rate (ESR), liver function tests, and ammonia level
- Manual smear for acanthocytes or genetic testing for Huntington disease if patient has chorea
See the list below:
- MRI of brain
- This study is particularly helpful in evaluating the size and appearance of the midbrain if any disturbance of eye movements is noted and progressive supranuclear palsy is being considered. Midbrain size should be relatively normal in cortical basal ganglionic degeneration (CBGD).
- Cortical atrophy usually occurs, and this can be more localized to the central sulci/supplementary motor area (SMA) and superior frontal gyrus than to the temporal/parietal cortex (the latter pattern is seen in dementia of the Alzheimer type).
- Abnormal signal in basal ganglia can occur with metal deposition in Wilson disease or Hallervorden-Spatz disease.
- Functional brain imaging is not generally needed, but it can be helpful in some patients to document that cognitive changes are neurological and not psychological in origin. Position emission tomography (PET) and single-photon emission computed tomography (SPECT) reveal asymmetric activity in both cortical (frontal-parietal) and subcortical (basal ganglia) regions.
See the list below:
- Neuropsychological testing or evaluation of limb apraxia by a cognitive neurologist, speech pathologist, or occupational therapist with advanced training and experience with neurodegenerative disorders is recommended. This can be useful to differentiate the more common patients with concomitant parkinsonism and Alzheimer disease, who also can be apraxic but should not have as severe a motor coordination deficit or alien limb sign.
- Electroencephalography (EEG) in cases of polymyoclonus or short history of rapid decline
- Somatosensory evoked potentials: These are not generally a part of the clinical workup. If done as part of the workup of reflex myoclonus, they should not show giant potentials.
In patients with prominent segmental myoclonus (especially if involving the face); eye movement disorder; and history of celiac sprue, chronic diarrhea, or unexplained arthritis, consider further workup to rule out the diagnosis of CNS Whipple disease.
- Lumbar puncture (LP) may be done to examine cerebrospinal fluid (CSF) for cells and elevated protein; the polymerase chain reaction (PCR) test for the organism Tropheryma whippleii should also be done.
- Consider jejunal biopsy; it can show changes characteristic of Whipple disease in the gut.
- If diagnosis is strongly desired (familial pattern) or features are atypical (rapid course), consider brain biopsy.
Cortical findings include frontoparietal atrophy and astrogliosis, neurophil threads, and occasionally neurofibrillary tangles and presence of swollen achromatic neurons (ballooned neurons or pale bodies). Argyrophilic tau-immunoreactive inclusion bodies can be found subcortically in the substantia nigra, where neuronal loss can also occur, as well as the basal ganglia and dentato-rubro-thalamic tracts. Although this description sounds different from that of progressive supranuclear palsy, tau-positive inclusions of CBGD may be coiled and thus they can be confused with tau-positive neurofibrillary tangles. Some cases of CBGD may thus be difficult to distinguish pathologically from progressive supranuclear palsy.
At this time, specific relationships between histopathological findings and clinical progression are not established. The disease course is, on average, about 7 years.
Boxer AL, Geschwind MD, Belfor N, et al. Patterns of brain atrophy that differentiate corticobasal degeneration syndrome from progressive supranuclear palsy. Arch Neurol. 2006 Jan. 63(1):81-6. [Medline].
Whitwell JL, Jack CR Jr., Boeve BF, Parisi JE, Ahlskog JE, Drubach DA, et al. Imaging correlates of pathology in corticobasal syndrome. Neurology. 2010. 75:1879-1887.
Bergeron C, Pollanen MS, Weyer L. Unusual clinical presentations of cortical-basal ganglionic degeneration. Ann Neurol. 1996 Dec. 40(6):893-900. [Medline].
Winter Y, Bezdolnyy Y, Katunina E, et al. Incidence of Parkinson's disease and atypical parkinsonism: Russian population-based study. Mov Disord. 2010 Feb 15. 25(3):349-56. [Medline].
DePold Hohler A, Ransom BR, Chun MR, Tröster AI, Samii A. The youngest reported case of corticobasal degeneration. Parkinsonism Relat Disord. 2003 Oct. 10(1):47-50. [Medline].
Boeve BF. The multiple phenotypes of corticobasal syndrome and corticobasal degeneration: implications for further study. J Mol Neurosci. 2011 Nov. 45(3):350-3. [Medline].
Heilman KM, Rothi LJG. Apraxia. Heilman KM, Valenstein E, eds. Clinical Neuropsychology. 2nd ed. New York: Oxford University Press; 1985. 131-50.
Kertesz A, Morlog D, Light M, et al. Galantamine in frontotemporal dementia and primary progressive aphasia. Dement Geriatr Cogn Disord. 2008. 25(2):178-85. [Medline].
Kouri N, Whitwell JL, Josephs KA, Rademakers R, Dickson DW. Corticobasal degeneration: a pathologically distinct 4R tauopathy. Nat Rev Neurol. 2011 May. 7(5):263-72. [Medline].
Benito-León J, Alvarez-Linera J, Louis ED. Neurosyphilis masquerading as corticobasal degeneration. Mov Disord. 2004 Nov. 19(11):1367-70. [Medline].
McMonagle P, Blair M, Kertesz A. Corticobasal degeneration and progressive aphasia. Neurology. 2006 Oct 24. 67(8):1444-51. [Medline].
Borroni B, Garibotto V, Agosti C, et al. White matter changes in corticobasal degeneration syndrome and correlation with limb apraxia. Arch Neurol. 2008 Jun. 65(6):796-801. [Medline].
Duda GK, Slowinski J, Opala G, Gorzkowska A, Myga BJ, Wszolek ZK, et al. Corticobasal degeneration-clinicopathological considerations. Folia Neuropathol. 2006. 44(4):257-264.
Fukui T, Sugita K, Kawamura M, Shiota J, Nakano I. Primary progressive apraxia in Pick's disease: a clinicopathologic study. Neurology. 1996 Aug. 47(2):467-73. [Medline].
Heilman KM. The apraxia of CBGD. Mov Disord. 1996. 11:348.
Josephs KA. Frontotemporal dementia and related disorders: deciphering the enigma. Ann Neurol. 2008 Jul. 64(1):4-14. [Medline].
Kertesz A, Blair M, McMonagle P, Munoz DG. The diagnosis and course of frontotemporal dementia. Alzheimer Dis Assoc Disord. 2007 Apr-Jun. 21(2):155-63. [Medline].
Kompoliti K, Goetz CG, Boeve BF, et al. Clinical presentation and pharmacological therapy in corticobasal degeneration. Arch Neurol. 1998 Jul. 55(7):957-61. [Medline].
Lang AE, Riley DE, Bergeron C. Cortical-basal ganglionic degeneration. Calne DB, ed. Neurodegenerative Diseases. Philadelphia: WB Saunders; 1994. 877-94.
Paulus W, Selim M. Corticonigral degeneration with neuronal achromasia and basal neurofibrillary tangles. Acta Neuropathol. 1990. 81(1):89-94. [Medline].
Rebeiz JJ, Kolodny EH, Richardson EP Jr. Corticodentatonigral degeneration with neuronal achromasia. Arch Neurol. 1968 Jan. 18(1):20-33. [Medline].
Reich SG, Grill SE. Corticobasal degeneration. Curr Treat Options Neurol. 2009 May. 11(3):179-85. [Medline].
Riley DE, Lang AE, Lewis A, et al. Cortical-basal ganglionic degeneration. Neurology. 1990 Aug. 40(8):1203-12. [Medline].
Sakurai Y, Hashida H, Uesugi H, et al. A clinical profile of corticobasal degeneration presenting as primary progressive aphasia. Eur Neurol. 1996. 36(3):134-7. [Medline].
Sano M, Ernesto C, Thomas RG, et al. A controlled trial of selegiline, alpha-tocopherol, or both as treatment for Alzheimer's disease. The Alzheimer's Disease Cooperative Study. N Engl J Med. 1997 Apr 24. 336(17):1216-22. [Medline].
Schellenberg GD, Höglinger G, Sleiman P, Rademakers R, Lambertus K, deSilva R, et al. A genome-wide association study of progressive supranuclear pals (PSP) and corticobasal degeneration (CBD). Alzh Dis Assoc Dis. 2010. 6(4, Suppl):S84-85.
Schofield EC, Caine D, Kril JJ, Cordato NJ, Halliday GM. Staging disease severity in movement disorder tauopathies: brain atrophy separates progressive supranuclear palsy from corticobasal degeneration. Mov Disord. 2005 Jan. 20(1):34-9. [Medline].
Takao M, Tsuchiya K, Mimura M, et al. Corticobasal degeneration as cause of progressive non-fluent aphasia: clinical, radiological and pathological study of an autopsy case. Neuropathology. 2006 Dec. 26(6):569-78. [Medline].
Togasaki DM, Tanner CM. Epidemiologic aspects. Adv Neurol. 2000. 82:53-9. [Medline].
Watts RL, Williams RS, Growden JD. Corticobasal ganglionic degeneration. Neurology (Cleveland). 1985. 35 (Suppl 1):178.
Wenning GK, Litvan I, Jankovic J, et al. Natural history and survival of 14 patients with corticobasal degeneration confirmed at postmortem examination. J Neurol Neurosurg Psychiatry. 1998 Feb. 64(2):184-9. [Medline]. [Full Text].