Table 1

Summary of published cases of adult onset Alexander’s disease and Rosenthal fibre encephalopathy

Neurological involvement
Age and sexSystemic disease [toxins/drugs]YesNoPostmortem CNS findings
RFE, Rosenthal fibre encephalopathy; RF, Rosenthal fibres; CAD, coronary artery disease; AF, atrial fibrillation; GI, gastrointestinal; DM, diabetes mellitus; ARF, acute renal failure; PUD, peptic ulcer disease; ARDS, adult respiratory distress syndrome; COAD, chronic obstructive airways disease; DVT, deep vein thrombosis; OA, osteoathritis; TB, tuberculosis; i.v., intravenous; anti-retroviral/toxo., anti-retroviral, and anti-toxoplasmosis therapy.
§Possible RFE (see text for details).
*These pathological changes were found on brain biopsy.
The numeric reference to each case is indicated in superscript.
Diagnosis of Alexander’s disease
27 Male15Bulbar palsy, tongue fasciculations, ataxia, spasticity–
32 Male2TB, intestinal obstruction, renal tract infection [anti-TB drugs]Bulbar palsy, ataxia, spasticityDiffuse RF, cavitating brain lesions
37 Male23Epilepsy, dementia, ataxia, spasticityDiffuse RF
39 Male5Ataxia, aphasia, cranial polyneuropathy, spasticityDiffuse RF, demyelination
61 Male4Spasticity, ataxia, nystagmusDiffuse RF and demyelination
23 Female4Hepatic and renal failure, alcoholic, depression [alcohol/psychotropic drugs]+Diffuse RF and demyelination in dentate nucleus
25 Female15Palatal myoclonus, tongue fasciculation, spasticity*Brain stem and periventricular RF, myelin pallor
26 Female24Ataxia, spasticity, visual deficit, dysphagia*Cerebellar RF
29 Female15Ataxia, dysphonia, spastic monoparesis–
37 Female4AsthmaSpasticity, ataxia, nystagmusRF and demyelination
39 Female3Perinatal hypoxiaChildhood seizures, ataxia, dementia, spasticity, pseudobulbar palsyDiffuse RF, demyelination, calcified basal ganglia
43 Female16Bulbar palsy, palatal myoclonus, ataxia, urinary incontinence–
43 Female25[alcohol/psychotropic drugs]+Diffuse RF, demyelination
48 Female16Diplopia, palatal myoclonus, spastic quadriparesis, ataxia, urinary and faecal incontinenceDiffuse RF, myelin pallor, astrogliosis
49 Female16Bulbar palsy, palatal myoclonus–
Diagnosis of Rosenthal fibre encephalopathy
19 Male26Metastatic testicular carcinoma, intestinal obstruction, septicaemia, low Mg2+/PO4− [i.v. feeding]SeizuresPredominantly brain stem RF and central pontine myelinolysis
22 Male12Schizophrenic, septicaemia, ARDS [solvent abuse, antipsychotics analgesics, procyclidine]Cognitive impairment, seizures, peripheral neuropathyBrain stem RF, demyelination, basal ganglia calcification
32 Male (current case)AIDS, lymphoma, CMV [anti-retroviral/toxo.]+Brain stem RF, CMV infection, lymphoma
66 Male27Stokes-Adams attacks, DMDementia, seizures, pseudobulbar palsy, spasticityBrain stem and cerebellar RF, multiple infarcts
70 Male11COAD, cor pulmonale, AF, DM, PUD, myelofibrosis+Predominantly brain stem RF
19 Female27Reticulum cell sarcoma [chemotherapy, steroids]+Brain stem and upper cervical cord RF, metastatic reticulum cell sarcoma
54 Female27Metastatic melanoma [chemotherapy]Dementia, ataxiaBrain stem RF, melanoma
65 Female11Ovarian carcinoma, DVT, ARF [chemotherapy]+Predominantly brain stem RF
§78 Female17Rheumatic fever, hypertension, OA, cataractsTIA, parkinsonism, dementiaCerebral infarction, brain stem RF
82 Female27Hypertension, CAD, gallstones, renal failure, GI bleed+Diffuse(?) RF, pontine infarction
85 Female28DM, CAD, hypertension, hypoglycaemia+Brain stem RF, early Alzheimer’s disease, Lewy bodies in locus coeruleus and raphe nuclei