Article Type : Case Report
Authors : Tuwei Y, Offord O and Kumar P
Keywords : Autoimmune cerebellar ataxia; Voltage-gated calcium channel antibodies; Paraneoplastic neurological syndromes; Lambert–Eaton myasthenic syndrome; Intravenous immunoglobulin; Immune-mediated ataxia; Oncological surveillance
Objective:
Autoimmune cerebellar ataxia is a potentially reversible cause of progressive
adult-onset ataxia and forms part of the spectrum of immune-mediated cerebellar
syndromes. Voltage-gated calcium channel (VGCC) antibodies, particularly
P/Q-type, are strongly associated with paraneoplastic neurological syndromes,
most notably those associated with small cell lung carcinoma. Neurological
manifestations may precede tumour detection, and an initial negative malignancy
screening test does not preclude occult neoplasia.
Case
Presentation: A 68-year-old woman presented with a three-year history of
progressive gait ataxia, episodic vertigo, and chronic tinnitus. Cerebrospinal
fluid analysis revealed elevated protein with minimal pleocytosis, indicative
of inflammatory pathology. Serum testing confirmed elevated anti-VGCC
antibodies (171 pM). Comprehensive autoimmune, infectious, and genetic
investigations were unremarkable, and cross-sectional imaging did not
definitively identify malignancy.
Management
and Outcome: The patient received intravenous immunoglobulin therapy and
multidisciplinary rehabilitation. Early immunotherapy has been linked to
improved neurological outcomes in immune-mediated cerebellar syndromes.
Structured longitudinal malignancy surveillance was implemented in accordance
with current paraneoplastic guidelines. Partial symptom stabilization was
achieved.
Conclusion:
This case highlights the importance of recognizing immune-mediated cerebellar
ataxia, initiating prompt immunomodulatory therapy, and maintaining ongoing
oncological surveillance despite initial negative tumour screening.
When
adults present with subacute or progressive cerebellar ataxia, it is essential
to consider immune-mediated and paraneoplastic causes, as timely intervention
may prevent irreversible neurological disability [1-4]. Autoimmune cerebellar
ataxia arises when antibody-mediated immune mechanisms disrupt cerebellar
synaptic transmission, impairing Purkinje cell function and leading to
progressive cerebellar dysfunction [1]. Early recognition is critical, as
prompt immunotherapy can limit permanent neuronal injury and improve clinical
outcomes [1,8]. Antibodies directed against voltage-gated calcium channels
(VGCC), particularly the P/Q-type, are most associated with Lambert–Eaton
myasthenic syndrome (LEMS) and paraneoplastic neurological syndromes,
especially those linked to small cell lung carcinoma (SCLC) [2,4]. However,
cerebellar syndromes can manifest without overt neuromuscular junction
involvement and may precede tumour detection by months or years [4,5].
Consequently, a negative initial malignancy screen does not exclude occult
neoplasia, necessitating structured longitudinal oncological surveillance
[5,6]. We report a case of anti-VGCC antibody–associated autoimmune cerebellar
ataxia in a patient with negative initial cancer screening, emphasizing diagnostic
considerations and the importance of early immunomodulatory therapy and
continued malignancy surveillance.
A
68-year-old woman presented with a three-year history of progressively
worsening gait imbalance, episodic vertigo, and tinnitus, resulting in
recurrent falls and increasing functional limitation. She reported significant
balance deterioration in low light and frequently required wall support when
walking at night. She described episodes of objective vertigo, recently
intensified chronic tinnitus, and motion-induced nausea while travelling in
vehicles. She also reported persistent cognitive difficulties following a
traumatic brain injury sustained at 28 years of age, characterized by episodic
disorientation and increased forgetfulness. Her past medical history was
notable for cervical dystonia managed with botulinum toxin injections. She also
reported longstanding gastrointestinal disturbances characterized by episodic
vomiting and diarrhoea associated with dairy intolerance. At 28 years of age,
she sustained significant traumatic injuries in a motorcycle accident,
including multiple pelvic fractures, contributing to baseline mobility
limitations. She was a lifelong non-smoker and consumed alcohol only
occasionally. On neurological examination, she demonstrated a broad-based
ataxic gait with impaired postural stability. Romberg's test was positive. Head
movements provoked vertigo accompanied by horizontal unidirectional nystagmus.
Limb strength was preserved, and no focal cranial nerve deficits were
identified. Coordination testing revealed dysmetria and impaired heel–shin
performance, consistent with cerebellar dysfunction. Diplopia was absent. The
constellation of progressive gait ataxia, vestibular symptoms, and objective
cerebellar signs was consistent with an acquired cerebellar syndrome, prompting
evaluation for immune-mediated and paraneoplastic causes [1,3].
Investigations
Routine
biochemistry demonstrated mild hyponatremia (sodium 129 mmol/L; reference range
135–145) and low urea (2.8 mmol/L; reference range 2.5–7.5). Renal function was
preserved (creatinine 54 µmol/L; eGFR >90 mL/min/1.73 m²). Corrected
calcium, magnesium, phosphate, and glucose were within normal limits. Full
blood count showed hemoglobin 116 g/L (mild anaemia), white cell counts 3.8
×10?/L (low-normal), and platelet count 219 ×10?/L. Inflammatory markers were
elevated (ESR 52 mm/h; CRP 14 mg/L).
Serum
testing demonstrated elevated anti–voltage-gated calcium channel (VGCC)
antibodies at 171 pM (reference <30 pM). Thyroid peroxidase antibodies (45.6
IU/mL; reference <5.6) and thyroglobulin antibodies (29.9 IU/mL; reference
<4.1) were elevated, consistent with euthyroid autoimmune thyroiditis
(thyroid function tests normal). Anti-VGKC antibodies, ANA, ANCA (C-ANCA and
P-ANCA), rheumatoid factor, and serum ACE were negative. Active vitamin B12,
folate, copper, and ceruloplasmin levels were normal. Genetic testing for
common spinocerebellar ataxias (including SCA1, 2, 3, 6, 7, 8, 17) did not
reveal pathogenic repeat expansions.
Serum
protein electrophoresis demonstrated polyclonal hypergammaglobulinemia (gamma
globulin 26 g/L) without monoclonal paraprotein on immunofixation.
Lumbar puncture demonstrated elevated cerebrospinal fluid (CSF) protein (770 mg/L; reference 150–450) with normal glucose and minimal pleocytosis (5 white cells/mm³). Cytology showed no malignant cells, and microbiological studies (bacterial, viral, fungal, and mycobacterial) were negative. Oligoclonal bands were not tested (add if available).
Imaging
In
a patient presenting with progressive adult-onset cerebellar ataxia, several
differential diagnoses were considered.
· Autoimmune cerebellar ataxia associated
with anti-VGCC antibodies was strongly considered given the progressive
cerebellar syndrome and antibody positivity [1]. Immune-mediated cerebellar
ataxias are recognized causes of subacute or progressive ataxia and may respond
to early immunotherapy [1,7,8].
· Paraneoplastic cerebellar degeneration was
also considered due to the established association between anti-VGCC antibodies
and paraneoplastic neurological syndromes, particularly SCLC [2,4,5]. Although
initial malignancy screening was negative, delayed tumour detection is
recognized, necessitating structured longitudinal surveillance [5].
· Vestibular migraine and peripheral
vestibular disorders were considered given the prominent vertigo and tinnitus.
However, the presence of persistent cerebellar signs, including dysmetria and
gait ataxia, supported a central rather than peripheral process [3].
· Post-infectious cerebellitis was
considered; however, the chronic, progressive course over three years and the
absence of a preceding infectious illness made this unlikely [1].
· Hereditary spinocerebellar ataxia was also
considered, given the patient's age at presentation. However, the absence of a
family history and the presence of antibody positivity and inflammatory
cerebrospinal fluid findings favored an acquired immune-mediated cause [3].
Overall, the clinical features, antibody profile, and exclusion of structural, genetic, and infectious causes supported a diagnosis of immune-mediated cerebellar ataxia [1,8,9].
Management
The
patient commenced intravenous immunoglobulin (IVIG) therapy (Privigen, 2 g/kg
divided over 5 days), with appropriate pre-medication (paracetamol,
antihistamine) and monitoring of vital signs. Baseline and interval laboratory
testing, including full blood count, renal function, and electrolytes, was
arranged to monitor for IVIG-related adverse effects (e.g., thrombosis, acute
kidney injury, aseptic meningitis). Given the progressive cerebellar syndrome
characterized by gait ataxia, imbalance worse in darkness, motion sensitivity,
and head-movement–provoked dizziness, falls precautions were instituted (e.g.,
non-slip footwear, walking aids, home environment assessment).
Multidisciplinary management, including physiotherapy and occupational therapy,
was arranged to optimize balance, improve gait stability, and reduce fall risk.
A structured vestibular rehabilitation program was initiated once the patient
was clinically stable. In view of the association between anti-VGCC antibodies
and paraneoplastic neurological syndromes, ongoing malignancy surveillance was
planned. Although initial CT chest imaging did not demonstrate malignancy, the
presence of small pulmonary nodules and a right perihilar lymph node warranted
interval imaging. Consideration of FDG-PET/CT scanning or short-interval CT
chest follow-up (e.g., at 3–6 months) was arranged in accordance with
recommendations for paraneoplastic syndromes [5]. Given the antibody profile,
evaluation for clinical features suggestive of Lambert–Eaton myasthenic syndrome
(LEMS) was also undertaken, including assessment of proximal muscle weakness,
hyporeflexia, and autonomic symptoms; no clear neuromuscular junction features
were identified at this stage. Repetitive nerve stimulation was not performed
but could be considered in future if symptoms emerge.
Outcome
Following completion of IVIG loading therapy, the patient demonstrated partial symptom stabilization. There was subjective improvement in motion sensitivity and a reduction in the severity of dizziness with head movement. Gait instability persisted, but fall frequency decreased with rehabilitation input. No new focal neurological deficits developed during admission. There were no significant IVIG-related complications (e.g., no headache, thrombosis, or renal impairment).
Figure
1: MRI Brain) – Axial T1-weighted image demonstrating
globally reduced cerebellar volume below the 10th percentile for age and sex,
with no focal lesion or mass effect.
Figure 2: MRI Brain) – Axial FLAIR image showing minimal small-vessel ischemic change in the periventricular white matter, with no signs of active cerebellitis or diffusion restriction.
Figure 3: MRI Brain) – Coronal T2-weighted image confirming absence of cerebellar oedema, enhancement, or acute inflammatory changes.
Figure
4: High-resolution CT Chest – Axial image showing a
right perihilar lymph node measuring 14 × 11 mm (arrow) and small subpleural
pulmonary nodules bilaterally. No definitive pulmonary mass or mediastinal
lymphadenopathy.
Close
neurological follow-up has been arranged at 3-month intervals to assess
clinical response, including serial evaluation of gait stability, limb
coordination, nystagmus, and functional independence (e.g., SARA scale or ICARS
if available). Ongoing assessment will determine the need for maintenance
immunotherapy (e.g., repeat IVIG every 4–8 weeks or alternative agents such as
rituximab if refractory). Serial malignancy surveillance will continue,
recognizing that tumour detection in paraneoplastic syndromes may occur months
or years after neurological presentation. Interval chest imaging (CT chest at 6
months, then annually for at least 2–3 years) has been scheduled in line with
risk profile and radiological recommendations [5]. FDG-PET/CT is under consideration
if any nodule enlarges or new symptoms arise. Vestibular rehabilitation and
physiotherapy will continue in the outpatient setting, with reassessment of
balance confidence and fall risk. The patient has been advised regarding safety
strategies in low-light environments and during rapid head movements. Long-term
follow-up will focus on early identification of relapse, monitoring for
additional autoimmune manifestations (e.g., LEMS, thyroid disease), and
periodic reassessment of paraneoplastic risk.
Autoimmune
cerebellar ataxia is an important and potentially treatable cause of
progressive imbalance in adults. Unlike degenerative ataxias, immune-mediated
cerebellar syndromes may stabilize or partially improve with timely
immunotherapy [1,8]. Early recognition is therefore critical to limit
irreversible neuronal injury. Anti–voltage-gated calcium channel (VGCC)
antibodies are classically associated with paraneoplastic neurological
syndromes and Lambert–Eaton myasthenic syndrome, particularly in the context of
small-cell lung carcinoma [2,4]. However, cerebellar dysfunction may occur in
isolation or precede neuromuscular junction involvement. These antibodies
impair presynaptic calcium influx, disrupting cerebellar synaptic transmission
and contributing to Purkinje cell dysfunction and progressive ataxia [2].
Neuroimaging considerations: The initial MRI, which included automated
volumetric analysis, reported cerebellar volume below the 10th percentile for
age and sex. A subsequent contrast-enhanced MRI did not demonstrate features of
active cerebellitis or acute intracranial pathology. The absence of
radiological evidence of active inflammation does not exclude immune-mediated
cerebellar dysfunction. Variations between studies may reflect differences in imaging
technique, volumetric methodology, or reporting emphasis rather than definitive
structural change [1,4]. Notably, chronic immune-mediated injury may present
with atrophy without gadolinium enhancement. Cerebrospinal fluid findings
supported an inflammatory process. Although CSF abnormalities in autoimmune
cerebellar ataxia are frequently non-specific (elevated protein with mild
pleocytosis), they help exclude infection and support an immune-mediated
aetiology [1]. Extensive evaluation excluded degenerative, metabolic, and
genetic causes of adult-onset ataxia, strengthening the likelihood of
antibody-mediated cerebellar dysfunction [3].
Paraneoplastic
surveillance: Given the recognized association between
VGCC antibodies and paraneoplastic syndromes, malignancy screening is
essential. Paraneoplastic neurological syndromes may precede tumour detection
by months or years, and negative initial imaging does not exclude occult
malignancy [4,5]. In this case, CT chest imaging identified small pulmonary
nodules and a right perihilar lymph node that were not diagnostic of malignancy
but warrant structured longitudinal surveillance. Updated diagnostic criteria
emphasise the importance of ongoing tumour screening in antibody-positive
patients [5,6]. The presence of thyroid antibodies in this patient is likely
coincidental, as autoimmune thyroid disease is common in older adults and does
not directly explain the cerebellar syndrome. Immunotherapy remains the
cornerstone of management in immune-mediated cerebellar ataxia [1,8]. Early
initiation of corticosteroids, intravenous immunoglobulin, or plasma exchange
may stabilize symptoms and improve functional outcomes. In this patient, IVIG
was chosen due to its favorable safety profile in older adults and absence of
contraindications. The partial clinical stabilization observed is consistent
with published case series. Rehabilitation: Multidisciplinary rehabilitation,
including physiotherapy and vestibular rehabilitation, plays a critical role in
reducing falls and maintaining independence [1].
Limitations
(added): This is a single case report, and thus findings may
not be generalizable. Long-term outcome data beyond the initial treatment
course are not yet available. CSF oligoclonal bands and repetitive nerve
stimulation were not performed, which could provide additional supportive
evidence
This
case demonstrates anti–voltage-gated calcium channel antibody–associated
autoimmune cerebellar ataxia presenting with progressive gait imbalance and
central vestibular symptoms. This report reinforces the importance of
considering autoimmune etiologies in adult-onset progressive ataxia, even when
neuroimaging findings are subtle or non-specific. It also highlights the need
for structured malignancy surveillance in antibody-positive patients and
supports early initiation of immunotherapy, along with multidisciplinary
rehabilitation, to optimize functional outcomes.
None
declared.
Patient consent
Informed
consent obtained from the patient for publication of this case report.
None
declared.
Patient consent
Informed
consent obtained from the patient for publication of this case report.