Table 2 ITPR1-IgG-seropositive patients reported in the English language literature: sex, age, clinical phenotypes, MRI features, tumour association
No. | Ref | Sex | Age | Clinical phenotype | Associated tumour | MRI |
|---|---|---|---|---|---|---|
a. With tumour diagnosis at last follow-up | Â | Â | ||||
1 | f | 28 | ACA (upper limb ataxia, severe gait ataxia, dysarthria, gaze disturbances) | Breast cancer, metastatic lymphadenopathy | Pontocerebellar atrophy with hot cross bun sign, w/o any other supra- or infratent. abnormalities | |
2 | [16] | m | 60 | PN (subacute motor axonal and demyelinating, EMG+), plus dysautonomia and impaired bladder/bowel function | Lung cancer (pT1b pN0 [0/18] L0 V0 Pn0 G2 R0) | Normal (cMRI + sMRI), later stroke |
3 | [16] | m | 40 | PN (sensory), plus depression | Multiple myeloma | N.d |
4 | [18] | m | 72 | PN (demyel. with sens. ataxia, EMG+) | Renal cell cancer, bone + liver metastases | N.d |
5 | [18] | f | 60 | PN (subacute, progressive axonal sensory > motor polyneuropathy, EMG+), plus myelopathy | Breast cancer, axillary lymph adenopathy | LETM (T2), diffuse enhancement of cervical nerve roots |
6 | [18] | f | 83 | Encephalitis (encephalopathy with EEG seizures, cogn. decl.), plus subacute pandysautonomia (TST, ART) | Lung cancer, mediastinal lymphadenopathy | Generalized brain atrophy, prominent in temporal lobes |
7 | [18] | f | 65 | ACA, plus double vision, subacute hearing loss | Breast cancer, malignant cells in the CSF | Normal |
8 | [18] | f | 13 | Myelitis (subacute spastic paraparesis) | High cancer/leukaemia risk due to Fanconi anaemia | Gd+ lesions of cerebellum, spinal cord, supratentorial brain; meningeal enhancement |
9 | [18] | f | 65 | Cervical dystonia, insomnia, anxiety, depression | Breast cancer, endometrial cancer | N.d |
10 | [28] | m | 66 | ACA (mild left cerebellar signs with dysmetria), plus mild bilateral lower limb weakness | Lung cancer (adenocarcinoma) | Brain metastasis |
b. No tumour identified at last follow-up | Â | Â | ||||
11 | [1] | N.d | N.d | ACA | N.d | N.d |
12 | [1] | N.d | N.d | ACA | N.d | N.d |
13 | [16] | m | 79 | PN (slowly progressive sensory and motor axonal and demyelinating, EMG+) | No tumour known | Normal (sMRI) |
14 | [27] | m | 41 | ACA (gait ataxia, horizontal nystagmus, bilateral intention tremor) | No tumour known | Several demyelinating brain lesions (Gd−) |
15 | [27] | f | 42 | ACA (gait ataxia, horizontal nystagmus, dysarthria, dysmetria, UL dysdiadochokinesis), plus dysautonomia | No tumour known | Mild cerebellar atrophy |
16 | [27] | f | 79 | ACA (gait ataxia, ataxia of UL, dysarthria), plus dysautonomia (orthostatic hypotension) and REM sleep disturbances | No tumour known | Multiple ischaemic lesions |
17 | [18] | m | 64 | PN (subacute painful symmetric diffuse axonal neuropathy, EMG+) | No tumour known (PET–CT) | N.d |
18 | [18] | f | 71 | ACA, plus vertigo, dysphasia, agraphia | No tumour known, cervical dysplasia | Cerebellar atrophy |
19 | [18] | f | 64 | ACA, plus vertigo, visual blurring | No tumour known, severe weight loss | N.d |
20 | [18] | f | 83 | Encephalitis with acute status epilepticus | No tumour known (PET–CT) | Subcortical right occipito-parietal T2 signal (Gd+) |
21 | Present case | f | 48 | ACA, plus encephalitis (rapidly progress., severe cogn. decline, mainly affect memory, attent. and execut. functions, optic hallucin., depression) | No tumour known, but elevated CA125 | Brain MRI normal, but FDG-PET showed glucose hypermetabolism in the right medial temporal lobe (amygdala, parahippocampus) and basal ganglia |