Parkinson’s disease with camptocormia
01 Nov 2006-Journal of Neurology, Neurosurgery, and Psychiatry (J Neurol Neurosurg Psychiatry)-Vol. 77, Iss: 11, pp 1223-1228
TL;DR: Patients with camptocormia were characterised by prominent levodopa-unresponsive axial symptoms (ie, axial rigidity, gait disorder and postural instability), along with a tendency for greater error in the antisaccade paradigm, and it is suggested that the salient features of parkinsonism observed in patients with camps are likely to represent a specific form of Parkinson’s disease.
Abstract: Background: Camptocormia is defined as an abnormal flexion of the trunk that appears when standing or walking and disappears in the supine position. The origin of the disorder is unknown, but it is usually attributed either to a primary or a secondary paravertebral muscle myopathy or a motor neurone disorder. Camptocormia is also observed in a minority of patients with parkinsonism. Objective: To characterise the clinical and electrophysiological features of camptocormia and parkinsonian symptoms in patients with Parkinson’s disease and camptocormia compared with patients with Parkinson’s disease without camptocormia. Methods: Patients with parkinsonism and camptocormia (excluding patients with multiple system atrophy) prospectively underwent a multidisciplinary clinical (neurological, neuropsychological, psychological, rheumatological) and neurophysiological (electromyogram, ocular movement recording) examination and were compared with age-matched patients with Parkinson’s disease without camptocormia. Results: The camptocormia developed after 8.5 (SD 5.3) years of parkinsonism, responded poorly to levodopa treatment (20%) and displayed features consistent with axial dystonia. Patients with camptocormia were characterised by prominent levodopa-unresponsive axial symptoms (ie, axial rigidity, gait disorder and postural instability), along with a tendency for greater error in the antisaccade paradigm. Conclusion: We suggest that (1) the salient features of parkinsonism observed in patients with camptocormia are likely to represent a specific form of Parkinson’s disease and camptocormia is an axial dystonia and (2) both camptocormia and parkinsonism in these patients might result from additional, non-dopaminergic neuronal dysfunction in the basal ganglia.
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TL;DR: Greater severity of PD was significantly associated with greater magnitude of scoliosis Cobb angle, even after adjusting for the effects of patient age and gender, and coronal parameters related to spine alignment, and disease severity were not significantly correlated with the dominant laterality of PD symptoms.
32 citations
TL;DR: Close similarities are presented between IPD and POLG-P: in contrast to other atypical Parkinson diseases like MSA-P or PSP-P, both entities feature predominant degeneration of nigro-striatal dopaminergic neurons, respond well not only to levodopa but also to dopamine agonists and display hyperechogenicity of the substantia nigra.
Abstract: Parkinsonism with or without chronic progressive ophthalmoplegia (CPEO) can be caused by mutations in the mitochondrial DNA polymerase g (POLG). POLG-associated Parkinsonism (POLG-P) is at least partially responsive to levodopa, but predictors of dopamine-response have not been reported. Of the plethora of different syndromes associated with POLG-mutations, depression and anxiety present common major therapeutic problems. Patients with idiopathic Parkinson’s disease (IPD) frequently show improvement not only of motor symptoms but also of depression and anxiety after initiation of treatment with levodopa or dopamine agonists. Here, we present a patient with POLG-P whose Parkinsonism and depression showed sustained excellent response to dopaminergic treatment. A 55-year-old woman of Croatian origin presented with a 3-year history of slowly progressive facial masking, hypophonia, symmetric cogwheeling of the wrists, shuffling gait, marked bradykinesia, and positive pull test, yielding 47/108 points in the UPDRS motor score. Bilateral ptosis, incomplete CPEO, and exercise intolerance had been present for 10 years and had led to the previous misdiagnosis of myasthenia gravis. Severe depression, indicated by 43/63 points on the Beck Depression Inventory, had been noted for 3 years. Family history on the paternal side was positive for CPEO and ptosis, and both sons of the patient, aged 28 and 25 years, were suffering from ptosis, depression, and anxiety but had no extrapyramidal movement abnormalities. Two consecutive subcutaneous injections of apomorphine markedly reduced UPDRS motor scores from 47 to 27 points (243%) on 2.5 mg apomorphine and from 55 to 26 points (253%) on 5 mg apomorphine (Supporting Table 1). The injections also lead to a rapid and marked amelioration of depressed mood. A long-term medication was initiated with extended release formulations of ropinirole (6 mg/d) and levodopa (100 mg/d). At 10 months follow-up, the patient presented with a sustained improvement of Parkinsonism and mood as evidenced by a decrease down to 20 points in the UPDRS motor score (257%) and to 4 points on the Beck Depression Inventory (291%) (Testing was done by an examiner blind to the results of the apomorphine tests; for details see Supporting Tables 1 and 2). I-FP-CIT-DATScan demonstrated a severe symmetric reduction of nigrostriatal dopamine transporters similar to advanced IPD (Fig. 1B) and ruled out a depression-induced ‘‘pseudo-Parkinsonism.’’ In addition, transcranial sonography (performed by an examiner blind to the history and clinical examination of the patient) revealed a hyperechogenic substantia nigra and a hypoechogenic raphe (Fig 1D), thus resembling the characteristic sonography midbrain findings of IPD with depression. Because of the suggestive phenotype and family history, a genetic analysis of the POLG gene was initiated, revealing a heterozygous Tyr955Cys mutation, which is known to present, interalia, as POLG-P with autosomal dominant inheritance. Our findings present close similarities between IPD and POLG-P: in contrast to other atypical Parkinson diseases like MSA-P or PSP-P, both entities feature predominant degeneration of nigro-striatal dopaminergic neurons, respond well not only to levodopa but also to dopamine agonists and display hyperechogenicity of the substantia nigra. These similarities are particularly interesting as increased levels of mtDNA deletion and respiratory chain deficiency have been found in substantia nigra neurons of IPD patients, thus suggesting mitochondrial dysfunction as part of the complex pathogenetic pathway of substantia nigra degeneration in IPD. As POLG mutations lead to elevated levels of oxidative stress and mtDNA damage, patients harboring these mutations might be at particular risk for IPD-like substantia nigra degeneration. Antidepressant effects of levodopa and dopamine agonists, especially of D4/D5 agonists like ropinirole, have been shown consistently in patients with IPD. Almost complete remission of depression in our patient might be partially attributed to her dramatic motor improvement but it is likely that specific dopaminergic effects like in IPD are also involved. Future studies are warranted to test whether depression in POLG-patients without Parkinsonism is also associated with a hypoechogenic raphe and responds to dopaminergic treatment as well. In conclusion, the large benefit from dopaminergic therapy emphasizes the need to identify motor and nonmotor parkinsonian features also in the large majority of those POLGpatients that present with a multifaceted phenotype. Moreover, differentiating POLG-P from other forms of atypical Parkinsonism is of great importance because of the potential excellent response to dopaminergic medication. Transcranial sonography and apopmorphine testing could serve as inexpensive, easily available tests for facilitating a differential diagnosis and to predict treatment response of both motor and nonmotor symptoms.
31 citations
Cites background from "Parkinson’s disease with camptocorm..."
...Among PD patients, camptocormia has a reported prevalence of 7%(2) and is associated with greater discomfort and disability.(3) It has features of a truncal kinesogenic dystonia....
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TL;DR: The convergent validity and clinical utility of the 6-min walk test (6MWT) for patients with moderate Parkinson’s disease (PD) is confirmed, using Hoehn and Yahr stage ratings, UPDRS motor examination score, 6MWT, Timed ‘Up & Go’ test (TUG), 10-m walk test, cadence, and the energy cost of walking (Ec).
Abstract: The aim of this study was to test the clinical utility of the 6-min walk test (6MWT) for patients with moderate Parkinson’s disease (PD) through a determination of factors related to this test. This was a descriptive, observational study carried out at a General Hospital, in-patients. Twenty-four pa
31 citations
Cites background from "Parkinson’s disease with camptocorm..."
...spine bending or camptocormia) may be related to gait disturbances in PD (Bloch et al., 2006)....
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...Postural abnormalities (i.e. spine bending or camptocormia) may be related to gait disturbances in PD (Bloch et al., 2006)....
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TL;DR: Despite the difficulty in characterizing the myopathy in patients with camptocormia, a definitive diagnosis was possible in 54% of cases and the pattern of associated extra‐axial weakness may provide clues to the diagnosis.
Abstract: Introduction: Camptocormia is the involuntary flexion of the thoracolumbar spine leading to an abnormal posture. Methods: We retrospectively identified patients with myopathy who manifested with camptocormia and were seen in our neuromuscular clinic. The diagnosis of myopathy was based on myopathic electromyographic changes, often accompanied by 1 or more of the following: elevated creatine kinase (CK); myopathic histopathological findings; and genetic confirmation. Results: Fifty-two patients were identified; 35 had symptoms limited to camptocormia, but were found to have additional weakness of facial (8 patients), neck (11 patients), and limb muscles (17 patients). CK values were normal or mildly to moderately elevated. MRI/CT of the spine showed paraspinal muscle atrophy and fat replacement. Facioscapulohumeral muscular dystrophy and sporadic inclusion body myositis were the most commonly identified myopathies in this cohort. Conclusions: Despite the difficulty in characterizing the myopathy in patients with camptocormia, a definitive diagnosis was possible in 54% of cases. The pattern of associated extra-axial weakness may provide clues to the diagnosis. Muscle Nerve 52: 1008–1012, 2015
30 citations
Cites background from "Parkinson’s disease with camptocorm..."
...Camptocormia, also known as bent spine syndrome, is an involuntary flexion of the thoracolumbar spine,(1,2) as indicated by its Greek etymology (“kamptos” meaning “to bend” and “cormos” meaning “trunk”).(3) It leads to a disabling abnormal posture enhanced by standing and walking and resolved by lying in a recumbent position....
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